Photo of David J. Kwiatkowski, MD, PhD

David J. Kwiatkowski, MD, PhD

Brigham And Women's Hospital

Brigham And Women's Hospital
Phone: (617) 355-9005
Fax: (617) 355-9016


dk@rics.bwh.harvard.edu

Photo of David J. Kwiatkowski, MD, PhD

Brigham And Women's Hospital
Phone: (617) 355-9005
Fax: (617) 355-9016


dk@rics.bwh.harvard.edu

Visualize Collaborations
Learn how these members are similar
Similar Members

DF/HCC members that share similar concepts* with David J. Kwiatkowski, MD, PhD but have yet to coauthor a publication with this researcher.

* Concepts are MeSH terms, automatically derived from member publications

Similar Members

David J. Kwiatkowski, MD, PhD

Brigham And Women's Hospital

EDUCATIONAL TITLES

  • Professor, Medicine, Harvard Medical School
  • Medical Oncologist, Thoracic Oncology Program, Dana-Farber Cancer Institute
  • Senior Physician, Medicine, Brigham And Women's Hospital

DF/HCC PROGRAM AFFILIATION

DF/HCC ASSOCIATIONS

  • Member, Center Scientific Council

Research Abstract

I have broad interests in human cancer genetics, and have been Program Leader for the DFHCC Cancer Genetics program for the past 8 years. I am an Associate Member of the Broad Institute, and have been active in multiple NCI TCGA (The Cancer Genome Atlas) projects, including adenocarcinoma and squamous cell carcinoma of the lung, bladder cancer, kidney chromophobe cancer, mesothelioma, and pathway analyses. I have run or co-directed DNA analysis and diagnostic laboratories for many years.

A major research interest is the tumor suppressor gene syndrome Tuberous Sclerosis (TSC), its causative genes, TSC1 and TSC2, and regulation both in normal and cancer cells of mTOR. We identified the TSC1 gene in 1997, have made mouse models of both Tsc1 and Tsc2, and have generated cell line models that are used widely. We pursue studies on the human molecular genetics of TSC, develop mouse models using null and conditional alleles of Tsc1 and Tsc2, explore biochemical and signaling pathways and therapeutic approaches. There is a particular interest in mosaicism in TSC, and the pathogenesis of all of the tumors that occur in this disease, including lymphangioleiomyomatosis (LAM), angiomyolipomas, subependymal giant cell astrocytomas, and renal carcinoma.

It has become apparent that a variety of cancers (partially due to our analyses) have mutations in TSC1 or TSC2 at rates of 1 – 10%. Moreover, in some cases TSC1/TSC2-mutant cancers are highly sensitive to treatment with rapalogs, with durable CRs lasting several years. We are studying these patients to elucidate the genetic and other determinants of response to rapalogs, and investigating synergistic treatment approaches. I am the PI of a Novartis-sponsored Investigator-initiated trial to treat all cancers with mutations in either TSC1 or TSC2 with everolimus. A variety of correlative genetic studies will be done as part of that trial.

Publications from Harvard Catalyst Profiles

Powered by Harvard Catalyst
  • McGregor BA, Xie W, Adib E, Stadler WM, Zakharia Y, Alva A, Michaelson MD, Gupta S, Lam ET, Farah S, Nassar AH, Wei XX, Kilbridge KL, Harshman L, Signoretti S, Sholl L, Kwiatkowski DJ, McKay RR, Choueiri TK. Biomarker-Based Phase II Study of Sapanisertib (TAK-228): An mTORC1/2 Inhibitor in Patients With Refractory Metastatic Renal Cell Carcinoma. JCO Precis Oncol 2022; 6:e2100448. PubMed
  • Wagner AJ, Ravi V, Riedel RF, Ganjoo K, Van Tine BA, Chugh R, Cranmer L, Gordon EM, Hornick JL, Du H, Grigorian B, Schmid AN, Hou S, Harris K, Kwiatkowski DJ, Desai NP, Dickson MA. -Sirolimus for Patients With Malignant Perivascular Epithelioid Cell Tumors. J Clin Oncol 2021; 39:3660-3670. PubMed
  • Bekele RT, Samant AS, Nassar AH, So J, Garcia EP, Curran CR, Hwang JH, Mayhew DL, Nag A, Thorner AR, Börcsök J, Sztupinszki Z, Pan CX, Bellmunt J, Kwiatkowski DJ, Sonpavde GP, Van Allen EM, Mouw KW. RAF1 amplification drives a subset of bladder tumors and confers sensitivity to MAPK-directed therapeutics. J Clin Invest 2021. PubMed
  • Klonowska K, Thiele EA, Grevelink JM, Thorner AR, Kwiatkowski DJ. Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex. J Med Genet 2021. PubMed
  • Adib E, Nassar AH, Akl EW, Abou Alaiwi S, Nuzzo PV, Mouhieddine TH, Sonpavde G, Haddad RI, Mouw KW, Giannakis M, Hodi FS, Shukla SA, Gusev A, Braun DA, Choueiri TK, Kwiatkowski DJ. Alterations and Response to Immunotherapy in Solid Tumors. Clin Cancer Res 2021. PubMed
  • Korotkov A, Sim NS, Luinenburg MJ, Anink JJ, van Scheppingen J, Zimmer TS, Bongaarts A, Broekaart DWM, Mijnsbergen C, Jansen FE, Van Hecke W, Spliet WGM, van Rijen PC, Feucht M, Hainfellner JA, Kršek P, Zamecnik J, Crino PB, Kotulska K, Lagae L, Jansen AC, Kwiatkowski DJ, Jozwiak S, Curatolo P, Mühlebner A, Lee JH, Mills JD, van Vliet EA, Aronica E. MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis. Neuropathol Appl Neurobiol 2021. PubMed
  • Rakaee M, Kilvaer TK, Jamaly S, Berg T, Paulsen EE, Berglund M, Richardsen E, Andersen S, Al-Saad S, Poehl M, Pezzella F, Kwiatkowski DJ, Bremnes RM, Busund LR, Donnem T. Tertiary lymphoid structure score: a promising approach to refine the TNM staging in resected non-small cell lung cancer. Br J Cancer 2021; 124:1680-1689. PubMed
  • Abou Alaiwi S, Nassar AH, Adib E, Groha SM, Akl EW, McGregor BA, Esplin ED, Yang S, Hatchell K, Fusaro V, Nielsen S, Kwiatkowski DJ, Sonpavde GP, Pomerantz M, Garber JE, Freedman ML, Rana HQ, Gusev A, Choueiri TK. Trans-ethnic variation in germline variants of patients with renal cell carcinoma. Cell Rep 2021; 34:108926. PubMed
  • Adib E, Klonowska K, Giannikou K, Do KT, Pruitt-Thompson S, Bhushan K, Milstein MI, Hedglin J, Kargus KE, Sholl LM, Tsuji J, Hyman DM, Sisk A, Shapiro GI, Vargas HA, Harding JJ, Voss MH, Iyer G, Kwiatkowski DJ. Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations. Clin Cancer Res 2021. PubMed
  • Kovalenko A, Sanin A, Kosmas K, Zhang L, Wang J, Akl EW, Giannikou K, Probst CK, Hougard TR, Rue RW, Krymskaya VP, Asara JM, Lam HC, Kwiatkowski DJ, Henske EP, Filippakis H. Therapeutic targeting of DGKA-mediated macropinocytosis leads to phospholipid reprogramming in Tuberous Sclerosis Complex. Cancer Res 2021. PubMed
  • Carrot-Zhang J, Yao X, Devarakonda S, Deshpande A, Damrauer JS, Silva TC, Wong CK, Choi HY, Felau I, Robertson AG, Castro MAA, Bao L, Rheinbay E, Liu EM, Trieu T, Haan D, Yau C, Hinoue T, Liu Y, Shapira O, Kumar K, Mungall KL, Zhang H, Lee JJ, Berger A, Gao GF, Zhitomirsky B, Liang WW, Zhou M, Moorthi S, Berger AH, Collisson EA, Zody MC, Ding L, Cherniack AD, Getz G, Elemento O, Benz CC, Stuart J, Zenklusen JC, Beroukhim R, Chang JC, Campbell JD, Hayes DN, Yang L, Laird PW, Weinstein JN, Kwiatkowski DJ, Tsao MS, Travis WD, Khurana E, Berman BP, Hoadley KA, Robine N, , Meyerson M, Govindan R, Imielinski M. Whole-genome characterization of lung adenocarcinomas lacking the RTK/RAS/RAF pathway. Cell Rep 2021; 34:108707. PubMed
  • Tang Y, Kwiatkowski DJ, Henske EP. mTORC1 hyperactivation in lymphangioleiomyomatosis leads to upregulation in type II pneumocytes: implications for COVID-19. Eur. Respir. J. 2021. PubMed
  • Cheah PS, Prabhakar S, Yellen D, Beauchamp RL, Zhang X, Kasamatsu S, Bronson RT, Thiele EA, Kwiatkowski DJ, Stemmer-Rachamimov A, György B, Ling KH, Kaneki M, Tannous BA, Ramesh V, Maguire CA, Breakefield XO. Gene therapy for tuberous sclerosis complex type 2 in a mouse model by delivery of AAV9 encoding a condensed form of tuberin. Sci Adv 2021. PubMed
  • Giannikou K, Zhu Z, Kim J, Winden KD, Tyburczy ME, Marron D, Parker JS, Hebert Z, Bongaarts A, Taing L, Long HW, Pisano WV, Alexandrescu S, Godlewski B, Nellist M, Kotulska K, Jozwiak S, Roszkowski M, Mandera M, Thiele EA, Lidov H, Getz G, Devinsky O, Lawrence MS, Ligon KL, Ellison DW, Sahin M, Aronica E, Meredith DM, Kwiatkowski DJ. Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile. Mod Pathol 2021; 34:264-279. PubMed
  • Mrozek EM, Bajaj V, Guo Y, Malinowska IA, Zhang J, Kwiatkowski DJ. Evaluation of Hsp90 and mTOR inhibitors as potential drugs for the treatment of TSC1/TSC2 deficient cancer. PLoS ONE 2021; 16:e0248380. PubMed
  • Tian X, Glass JE, Kwiatkowski DJ, Towbin AJ, Li Y, Sund KL, Krueger DA, Franz DN, McCormack FX, Gupta N. Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex. Ann Am Thorac Soc 2020. PubMed
  • Bellmunt J, Kim J, Reardon B, Perera-Bel J, Orsola A, Rodriguez-Vida A, Wankowicz SA, Bowden M, Barletta JA, Morote J, de Torres I, Juanpere N, Lloreta-Trull J, Mouw KW, Taplin ME, Cejas P, Long HW, Van Allen EM, Getz G, Kwiatkowski DJ. Genomic predictors of good outcome, recurrence or progression in High grade T1 non-muscle invasive bladder cancer. Cancer Res 2020. PubMed
  • Guo M, Yu JJ, Perl AK, Wikenheiser-Brokamp KA, Riccetti M, Zhang EY, Sudha P, Adam M, Potter A, Kopras EJ, Giannikou K, Potter SS, Sherman S, Hammes SR, Kwiatkowski DJ, Whitsett JA, McCormack FX, Xu Y. Single Cell Transcriptomic Analysis Identifies a Unique Pulmonary Lymphangioleiomyomatosis Cell. Am J Respir Crit Care Med 2020. PubMed
  • Ogórek B, Hamieh L, Hulshof HM, Lasseter K, Klonowska K, Kuijf H, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Benova B, Aronica E, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Janson S, Kozlowski P, Urbanska M, Jaworski J, Jozwiak S, Jansen FE, Kotulska K, , Kwiatkowski DJ. TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study. Genet Med 2020. PubMed
  • Lasseter K, Nassar AH, Hamieh L, Berchuck JE, Nuzzo PV, Korthauer K, Shinagare AB, Ogorek B, McKay R, Thorner AR, Lee GM, Braun DA, Bhatt RS, Freedman M, Choueiri TK, Kwiatkowski DJ. Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma. Genet Med 2020. PubMed
  • Abou Alaiwi S, Nassar AH, Xie W, Bakouny Z, Berchuck JE, Braun DA, Baca SC, Nuzzo PV, Flippot R, Mouhieddine TH, Spurr LF, Li YY, Li T, Flaifel A, Steinharter JA, Margolis CA, Vokes NI, Du H, Shukla SA, Cherniack AD, Sonpavde G, Haddad RI, Awad MM, Giannakis M, Hodi FS, Liu XS, Signoretti S, Kadoch C, Freedman ML, Kwiatkowski DJ, Van Allen EM, Choueiri TK. Mammalian SWI/SNF Complex Genomic Alterations and Immune Checkpoint Blockade in Solid Tumors. Cancer Immunol Res 2020. PubMed
  • El-Chemaly S, Taveira-DaSilva A, Bagwe S, Klonowska K, Machado T, Lamattina AM, Goldberg HJ, Jones AM, Julien-Williams P, Maurer R, Rosas IO, Henske EP, Moss J, Kwiatkowski DJ. Celecoxib in LAM: Results of a Phase I Clinical Trial. Eur. Respir. J. 2020. PubMed
  • Nassar AH, Mouw KW, Jegede O, Shinagare AB, Kim J, Liu CJ, Pomerantz M, Harshman LC, Van Allen EM, Wei XX, McGregor B, Choudhury AD, Preston MA, Dong F, Signoretti S, Lindeman NI, Bellmunt J, Choueiri TK, Sonpavde G, Kwiatkowski DJ. A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma. Br J Cancer 2019. PubMed
  • Nassar AH, Abou Alaiwi S, AlDubayan SH, Moore N, Mouw KW, Kwiatkowski DJ, Choueiri TK, Curran C, Berchuck JE, Harshman LC, Nuzzo PV, Chanza NM, Van Allen E, Esplin ED, Yang S, Callis T, Garber JE, Rana HQ, Sonpavde G. Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma. Genet Med 2019. PubMed
  • Prabhakar S, Cheah PS, Zhang X, Zinter M, Gianatasio M, Hudry E, Bronson RT, Kwiatkowski DJ, Stemmer-Rachamimov A, Maguire CA, Sena-Esteves M, Tannous BA, Breakefield XO. Long-Term Therapeutic Efficacy of Intravenous AAV-Mediated Hamartin Replacement in Mouse Model of Tuberous Sclerosis Type 1. Mol Ther Methods Clin Dev 2019; 15:18-26. PubMed
  • Boyle TA, Khalil FK, Mino-Kenudson M, Sica GL, Moreira AL, Sholl LM, Knight MZ, Zhang L, Saller J, Varella-Garcia M, Berry LD, Chen H, Ellison KE, Rivard CJ, Kugler K, Wistuba II, Fujimoto J, Kwiatkowski DJ, Bunn PA, Kris MG, Haura EB, Hirsch FR, . Round Robin Evaluation of MET Protein Expression in Lung Adenocarcinomas Improves Interobserver Concordance. Appl. Immunohistochem. Mol. Morphol. 2019. PubMed
  • Nassar AH, Hamieh L, Gray KP, Thorner AR, Fay AP, Lasseter KD, Abou Alaiwi S, Nuzzo PV, Flippot R, Krajewski KM, Signoretti S, Choueiri TK, Kwiatkowski DJ. Mutations and Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma. Mol Cancer Ther 2019. PubMed
  • Zarei M, Du H, Nassar AH, Yan RE, Giannikou K, Johnson SH, Lam HC, Henske EP, Wang Y, Zhang T, Asara J, Kwiatkowski DJ. Tumors with TSC mutations are sensitive to CDK7 inhibition through NRF2 and glutathione depletion. J Exp Med 2019. PubMed
  • Ogorek B, Hamieh L, Lasseter K, Bagwe S, Machado T, Herranz-Ors C, Thorner AR, Nag A, Gulleman P, Giannikou K, Young LR, Pujana MÀ, Darling TN, El-Chemaly S, Moss J, Henske EP, Kwiatkowski DJ. Generalized mosaicism for mutation in isolated Lymphangioleiomyomatosis. Eur. Respir. J. 2019. PubMed
  • Guo R, Berry LD, Aisner DL, Sheren J, Boyle T, Bunn PA, Johnson BE, Kwiatkowski DJ, Drilon A, Sholl LM, Kris MG. MET IHC is a Poor Screen for MET Amplification or MET exon 14 mutations in Lung Adenocarcinomas: Data from a Tri-Institutional Cohort of the Lung Cancer Mutation Consortium. J Thorac Oncol 2019. PubMed
  • Giannikou K, Lasseter KD, Grevelink JM, Tyburczy ME, Dies KA, Zhu Z, Hamieh L, Wollison BM, Thorner AR, Ruoss SJ, Thiele EA, Sahin M, Kwiatkowski DJ. Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med 2019. PubMed
  • Kim W, Giannikou K, Dreier JR, Lee S, Tyburczy ME, Silverman EK, Radzikowska E, Wu S, Wu CL, Henske EP, Hunninghake G, Carel H, Roman A, Pujana MA, Moss J, Won S, Kwiatkowski DJ. A genome-wide association study implicates in lymphangioleiomyomatosis pathogenesis. Eur. Respir. J. 2019. PubMed
  • Treichel AM, Hamieh L, Nathan NR, Tyburczy ME, Wang JA, Oyerinde O, Raiciulescu S, Julien-Williams P, Jones AM, Gopalakrishnan V, Moss J, Kwiatkowski DJ, Darling TN. Phenotypic distinctions between mosaic forms of tuberous sclerosis complex. Genet Med 2019. PubMed
  • Cho JH, Patel B, Bonala S, Mansouri H, Manne S, Vadrevu SK, Ghouse S, Kung CP, Murphy ME, Astrinidis A, Henske EP, Kwiatkowski DJ, Markiewski MM, Karbowniczek M. The Codon 72 Polymorphism Contributes to TSC Tumorigenesis through the Notch-Nodal Axis. Mol Cancer Res 2019. PubMed
  • Salussolia CL, Klonowska K, Kwiatkowski DJ, Sahin M. Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. Annu Rev Genomics Hum Genet 2019. PubMed
  • Hong AL, Guerriero JL, Doshi MB, Kynnap BD, Kim WJ, Schinzel AC, Modiste R, Schlauch AJ, Adam RM, Kwiatkowski DJ, Beroukhim R, Letai A, Rosenberg JE, Hahn WC. MCL1 and DEDD Promote Urothelial Carcinoma Progression. Mol Cancer Res 2019. PubMed
  • El Osta B, Behera M, Kim S, Berry LD, Sica G, Pillai RN, Owonikoko TK, Kris MG, Johnson BE, Kwiatkowski DJ, Sholl LM, Aisner DL, Bunn PA, Khuri FR, Ramalingam SS. Characteristics and Outcomes of Patients With Metastatic KRAS-Mutant Lung Adenocarcinomas: The Lung Cancer Mutation Consortium Experience. J Thorac Oncol 2019. PubMed
  • Nassar AH, Umeton R, Kim J, Lundgren K, Harshman LC, Van Allen EM, Preston MA, Dong F, Bellmunt J, Mouw KW, Choueiri TK, Sonpavde G, Kwiatkowski DJ. Mutational analysis of 472 urothelial carcinoma across grades and anatomic sites. Clin Cancer Res 2018. PubMed
  • Hmeljak J, Sanchez-Vega F, Hoadley KA, Shih J, Stewart C, Heiman D, Tarpey P, Danilova L, Drill E, Gibb EA, Bowlby R, Kanchi R, Osmanbeyoglu HU, Sekido Y, Takeshita J, Newton Y, Graim K, Gupta M, Gay CM, Diao L, Gibbs DL, Thorsson V, Iype L, Kantheti H, Severson DT, Ravegnini G, Desmeules P, Jungbluth AA, Travis WD, Dacic S, Chirieac LR, Galateau-Sallé F, Fujimoto J, Husain AN, Silveira HC, Rusch VW, Rintoul RC, Pass H, Kindler H, Zauderer MG, Kwiatkowski DJ, Bueno R, Tsao AS, Creaney J, Lichtenberg T, Leraas K, Bowen J, , Felau I, Zenklusen JC, Akbani R, Cherniack AD, Byers LA, Noble MS, Fletcher JA, Robertson AG, Shen R, Aburatani H, Robinson BW, Campbell P, Ladanyi M. Integrative Molecular Characterization of Malignant Pleural Mesothelioma. 2018; 8:1548-1565. PubMed
  • Hamieh L, Choueiri TK, Ogórek B, Khabibullin D, Rosebrock D, Livitz D, Fay A, Pignon JC, McDermott DF, Agarwal N, Gao W, Signoretti S, Kwiatkowski DJ. Mechanisms of acquired resistance to rapalogs in metastatic renal cell carcinoma. PLoS Genet. 2018; 14:e1007679. PubMed
  • Du H, Dreier JR, Zarei M, Wu CL, Bronson RW, Kwiatkowski DJ. A novel mouse model of hemangiopericytoma due to loss of Tsc2. Hum Mol Genet 2018. PubMed
  • Oxnard GR, Hu Y, Mileham KF, Husain H, Costa DB, Tracy P, Feeney N, Sholl LM, Dahlberg SE, Redig AJ, Kwiatkowski DJ, Rabin MS, Paweletz CP, Thress KS, Jänne PA. Assessment of Resistance Mechanisms and Clinical Implications in Patients With EGFR T790M-Positive Lung Cancer and Acquired Resistance to Osimertinib. JAMA Oncol 2018. PubMed
  • Priolo C, Khabibullin D, Reznik E, Filippakis H, Ogórek B, Kavanagh TR, Nijmeh J, Herbert ZT, Asara JM, Kwiatkowski DJ, Wu CL, Henske EP. Impairment of gamma-glutamyl transferase 1 activity in the metabolic pathogenesis of chromophobe renal cell carcinoma. Proc Natl Acad Sci U S A 2018; 115:E6274-E6282. PubMed
  • Ricketts CJ, De Cubas AA, Fan H, Smith CC, Lang M, Reznik E, Bowlby R, Gibb EA, Akbani R, Beroukhim R, Bottaro DP, Choueiri TK, Gibbs RA, Godwin AK, Haake S, Hakimi AA, Henske EP, Hsieh JJ, Ho TH, Kanchi RS, Krishnan B, Kwiatkowski DJ, Lui W, Merino MJ, Mills GB, Myers J, Nickerson ML, Reuter VE, Schmidt LS, Shelley CS, Shen H, Shuch B, Signoretti S, Srinivasan R, Tamboli P, Thomas G, Vincent BG, Vocke CD, Wheeler DA, Yang L, Kim WY, Robertson AG, , Spellman PT, Rathmell WK, Linehan WM. The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. Cell Rep 2018; 23:3698. PubMed
  • Gao X, Jegede O, Gray C, Catalano PJ, Novak J, Kwiatkowski DJ, McKay RR, George DJ, Choueiri TK, McDermott DF, Signoretti S, Bhatt RS. Comprehensive Genomic Profiling of Metastatic Tumors in a Phase 2 Biomarker Study of Everolimus in Advanced Renal Cell Carcinoma. Clin Genitourin Cancer 2018. PubMed
  • Ogórek B, Lam HC, Khabibullin D, Liu HJ, Nijmeh J, Triboulet R, Kwiatkowski DJ, Gregory RI, Henske EP. TSC2 Regulates microRNA Biogenesis via mTORC1 and GSK3β. Hum Mol Genet 2018. PubMed
  • Lindeman NI, Cagle PT, Aisner DL, Arcila ME, Beasley MB, Bernicker EH, Colasacco C, Dacic S, Hirsch FR, Kerr K, Kwiatkowski DJ, Ladanyi M, Nowak JA, Sholl L, Temple-Smolkin R, Solomon B, Souter LH, Thunnissen E, Tsao MS, Ventura CB, Wynes MW, Yatabe Y. Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the J Mol Diagn 2018; 20:129-159. PubMed
  • Lindeman NI, Cagle PT, Aisner DL, Arcila ME, Beasley MB, Bernicker EH, Colasacco C, Dacic S, Hirsch FR, Kerr K, Kwiatkowski DJ, Ladanyi M, Nowak JA, Sholl L, Temple-Smolkin R, Solomon B, Souter LH, Thunnissen E, Tsao MS, Ventura CB, Wynes MW, Yatabe Y. Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the  J Thorac Oncol 2018; 13:323-358. PubMed
  • Lindeman NI, Cagle PT, Aisner DL, Arcila ME, Beasley MB, Bernicker EH, Colasacco C, Dacic S, Hirsch FR, Kerr K, Kwiatkowski DJ, Ladanyi M, Nowak JA, Sholl L, Temple-Smolkin R, Solomon B, Souter LH, Thunnissen E, Tsao MS, Ventura CB, Wynes MW, Yatabe Y. Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Arch Pathol Lab Med 2018; 142:321-346. PubMed
  • Chen F, Zhang Y, Gibbons DL, Deneen B, Kwiatkowski DJ, Ittmann M, Creighton CJ. Pan-Cancer Molecular Classes Transcending Tumor Lineage Across 32 Cancer Types, Multiple Data Platforms, and over 10,000 Cases. Clin Cancer Res 2018. PubMed
  • Nassar AH, Lundgren K, Pomerantz M, Van Allen E, Harshman L, Choudhury AD, Preston MA, Steele GS, Mouw KW, Wei XX, McGregor BA, Choueiri TK, Bellmunt J, Kwiatkowski DJ, Sonpavde GP. Enrichment of FGFR3-TACC3 Fusions in Patients With Bladder Cancer Who Are Young, Asian, or Have Never Smoked. JCO Precis Oncol 2018. PubMed
  • Nassar AH, Lundgren K, Kim J, Choueiri TK, Sonpavde GP, Kwiatkowski DJ, Bellmunt J. Sequential Response to Inhibition With Subsequent Exceptional Response to Atezolizumab in a Patient With Fusion-Positive Metastatic Urothelial Carcinoma. JCO Precis Oncol 2018. PubMed
  • D'Gama AM, Woodworth MB, Hossain AA, Bizzotto S, Hatem NE, LaCoursiere CM, Najm I, Ying Z, Yang E, Barkovich AJ, Kwiatkowski DJ, Vinters HV, Madsen JR, Mathern GW, Blümcke I, Poduri A, Walsh CA. Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. Cell Rep 2017; 21:3754-3766. PubMed
  • Aisner DL, Sholl LM, Berry L, Rossi M, Chen H, Fujimoto J, Moreira AL, Ramalingam S, Villaruz LC, Otterson GA, Haura EB, Politi K, Glisson BS, Cetnar J, Garon E, Schiller J, Waqar S, Sequist LV, Brahmer JR, Shyr Y, Kugler K, Wistuba II, Johnson BE, Minna JD, Kris MG, Bunn PA, Kwiatkowski DJ. The Impact of Smoking and TP53 mutations in lung adenocarcinoma patients with targetable mutations - the Lung Cancer Mutation Consortium (LCMC2). Clin Cancer Res 2017. PubMed
  • Cho JH, Patel B, Bonala S, Manne S, Zhou Y, Vadrevu SK, Patel J, Peronaci M, Ghouse S, Henske EP, Roegiers F, Giannikou K, Kwiatkowski DJ, Mansouri H, Markiewski MM, White B, Karbowniczek M. Notch transactivates Rheb to maintain the multipotency of TSC-null cells. Nat Commun 2017; 8:1848. PubMed
  • Valvezan AJ, Turner M, Belaid A, Lam HC, Miller SK, McNamara MC, Baglini C, Housden BE, Perrimon N, Kwiatkowski DJ, Asara JM, Henske EP, Manning BD. mTORC1 Couples Nucleotide Synthesis to Nucleotide Demand Resulting in a Targetable Metabolic Vulnerability. Cancer Cell 2017; 32:624-638.e5. PubMed
  • Bongaarts A, Giannikou K, Reinten RJ, Anink JJ, Mills JD, Jansen FE, Spliet GMW, den Dunnen WFA, Coras R, Blümcke I, Paulus W, Scholl T, Feucht M, Kotulska K, Jozwiak S, Buccoliero AM, Caporalini C, Giordano F, Genitori L, Söylemezoğlu F, Pimentel J, Nellist M, Schouten-van Meeteren AYN, Nag A, Mühlebner A, Kwiatkowski DJ, Aronica E. Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations. 2017; 8:95516-95529. PubMed
  • Robertson AG, Kim J, Al-Ahmadie H, Bellmunt J, Guo G, Cherniack AD, Hinoue T, Laird PW, Hoadley KA, Akbani R, Castro MAA, Gibb EA, Kanchi RS, Gordenin DA, Shukla SA, Sanchez-Vega F, Hansel DE, Czerniak BA, Reuter VE, Su X, de Sa Carvalho B, Chagas VS, Mungall KL, Sadeghi S, Pedamallu CS, Lu Y, Klimczak LJ, Zhang J, Choo C, Ojesina AI, Bullman S, Leraas KM, Lichtenberg TM, Wu CJ, Schultz N, Getz G, Meyerson M, Mills GB, McConkey DJ, , Weinstein JN, Kwiatkowski DJ, Lerner SP. Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer. Cell 2017; 171:540-556.e25. PubMed
  • Li C, Liu X, Liu Y, Zhang E, Medepalli K, Masuda K, Li N, Wikenheiser-Brokamp KA, Osterburg A, Borchers MT, Kopras EJ, Plas DR, Sun J, Franz DN, Capal JK, Mays M, Sun Y, Kwiatkowski DJ, Alayev A, Holz MK, Krueger DA, Siroky BJ, Yu JJ. Tuberin Regulates Prostaglandin Receptor-Mediated Viability, via Rheb, in mTORC1-Hyperactive Cells. Mol Cancer Res 2017; 15:1318-1330. PubMed
  • Goldstein JT, Berger AC, Shih J, Duke FF, Furst L, Kwiatkowski DJ, Cherniack AD, Meyerson M, Strathdee CA. Genomic activation of PPARG reveals a candidate therapeutic axis in bladder cancer. Cancer Res 2017. PubMed
  • Julian LM, Delaney SP, Wang Y, Goldberg AA, Doré C, Yockell-Lelièvre J, Tam RY, Giannikou K, McMurray F, Shoichet MS, Harper ME, Henske EP, Kwiatkowski DJ, Darling TN, Moss J, Kristof AS, Stanford WL. Human Pluripotent Stem Cell-Derived TSC2-Haploinsufficient Smooth Muscle Cells Recapitulate Features of Lymphangioleiomyomatosis. Cancer Res 2017. PubMed
  • Mills JD, Iyer AM, van Scheppingen J, Bongaarts A, Anink JJ, Janssen B, Zimmer TS, Spliet WG, van Rijen PC, Jansen FE, Feucht M, Hainfellner JA, Krsek P, Zamecnik J, Kotulska K, Jozwiak S, Jansen A, Lagae L, Curatolo P, Kwiatkowski DJ, Pasterkamp RJ, Senthilkumar K, von Oerthel L, Hoekman MF, Gorter JA, Crino PB, Mühlebner A, Scicluna BP, Aronica E. Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment. Sci Rep 2017; 7:8089. PubMed
  • Han MK, Tyburczy ME, Darling TN, Kazerooni EA, Myers JL, McCormack FX, Moss J, Kwiatkowski DJ. Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation. Ann Am Thorac Soc 2017; 14:1227-1229. PubMed
  • Zhang Y, Kwok-Shing Ng P, Kucherlapati M, Chen F, Liu Y, Tsang YH, de Velasco G, Jeong KJ, Akbani R, Hadjipanayis A, Pantazi A, Bristow CA, Lee E, Mahadeshwar HS, Tang J, Zhang J, Yang L, Seth S, Lee S, Ren X, Song X, Sun H, Seidman J, Luquette LJ, Xi R, Chin L, Protopopov A, Westbrook TF, Shelley CS, Choueiri TK, Ittmann M, Van Waes C, Weinstein JN, Liang H, Henske EP, Godwin AK, Park PJ, Kucherlapati R, Scott KL, Mills GB, Kwiatkowski DJ, Creighton CJ. A Pan-Cancer Proteogenomic Atlas of PI3K/AKT/mTOR Pathway Alterations. Cancer Cell 2017; 31:820-832.e3. PubMed
  • Zhang H, Fillmore Brainson C, Koyama S, Redig AJ, Chen T, Li S, Gupta M, Garcia-de-Alba C, Paschini M, Herter-Sprie GS, Lu G, Zhang X, Marsh BP, Tuminello SJ, Xu C, Chen Z, Wang X, Akbay EA, Zheng M, Palakurthi S, Sholl LM, Rustgi AK, Kwiatkowski DJ, Diehl JA, Bass AJ, Sharpless NE, Dranoff G, Hammerman PS, Ji H, Bardeesy N, Saur D, Watanabe H, Kim CF, Wong KK. Lkb1 inactivation drives lung cancer lineage switching governed by Polycomb Repressive Complex 2. Nat Commun 2017; 8:14922. PubMed
  • Cao J, Tyburczy ME, Moss J, Darling TN, Widlund HR, Kwiatkowski DJ. Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation. J Clin Invest 2017; 127:349-364. PubMed
  • Hartley CP, Kwiatkowski DJ, Hamieh L, Lefferts JA, Smith KD, Lisovsky M. Pancreatic PEComa is a novel member of the family of tuberous sclerosis complex-associated tumors: case report and review of the literature. Virchows Arch 2016; 469:707-710. PubMed
  • Sholl LM, Do K, Shivdasani P, Cerami E, Dubuc AM, Kuo FC, Garcia EP, Jia Y, Davineni P, Abo RP, Pugh TJ, van Hummelen P, Thorner AR, Ducar M, Berger AH, Nishino M, Janeway KA, Church A, Harris M, Ritterhouse LL, Campbell JD, Rojas-Rudilla V, Ligon AH, Ramkissoon S, Cleary JM, Matulonis U, Oxnard GR, Chao R, Tassell V, Christensen J, Hahn WC, Kantoff PW, Kwiatkowski DJ, Johnson BE, Meyerson M, Garraway LA, Shapiro GI, Rollins BJ, Lindeman NI, MacConaill LE. Institutional implementation of clinical tumor profiling on an unselected cancer population. JCI Insight 2016; 1:e87062. PubMed
  • Giannikou K, Malinowska IA, Pugh TJ, Yan R, Tseng YY, Oh C, Kim J, Tyburczy ME, Chekaluk Y, Liu Y, Alesi N, Finlay GA, Wu CL, Signoretti S, Meyerson M, Getz G, Boehm JS, Henske EP, Kwiatkowski DJ. Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development. PLoS Genet. 2016; 12:e1006242. PubMed
  • Fay AP, de Velasco G, Ho TH, Van Allen EM, Murray B, Albiges L, Signoretti S, Hakimi AA, Stanton ML, Bellmunt J, McDermott DF, Atkins MB, Garraway LA, Kwiatkowski DJ, Choueiri TK. Whole-Exome Sequencing in Two Extreme Phenotypes of Response to VEGF-Targeted Therapies in Patients With Metastatic Clear Cell Renal Cell Carcinoma. J Natl Compr Canc Netw 2016; 14:820-4. PubMed
  • Campbell JD, Alexandrov A, Kim J, Wala J, Berger AH, Pedamallu CS, Shukla SA, Guo G, Brooks AN, Murray BA, Imielinski M, Hu X, Ling S, Akbani R, Rosenberg M, Cibulskis C, Ramachandran A, Collisson EA, Kwiatkowski DJ, Lawrence MS, Weinstein JN, Verhaak RG, Wu CJ, Hammerman PS, Cherniack AD, Getz G, , Artyomov MN, Schreiber R, Govindan R, Meyerson M. Distinct patterns of somatic genome alterations in lung adenocarcinomas and squamous cell carcinomas. Nat Genet 2016; 48:607-16. PubMed
  • Kim J, Mouw KW, Polak P, Braunstein LZ, Kamburov A, Tiao G, Kwiatkowski DJ, Rosenberg JE, Van Allen EM, D'Andrea AD, Getz G. Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors. Nat Genet 2016. PubMed
  • Chen F, Zhang Y, Şenbabaoğlu Y, Ciriello G, Yang L, Reznik E, Shuch B, Micevic G, De Velasco G, Shinbrot E, Noble MS, Lu Y, Covington KR, Xi L, Drummond JA, Muzny D, Kang H, Lee J, Tamboli P, Reuter V, Shelley CS, Kaipparettu BA, Bottaro DP, Godwin AK, Gibbs RA, Getz G, Kucherlapati R, Park PJ, Sander C, Henske EP, Zhou JH, Kwiatkowski DJ, Ho TH, Choueiri TK, Hsieh JJ, Akbani R, Mills GB, Hakimi AA, Wheeler DA, Creighton CJ. Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma. Cell Rep 2016; 14:2476-89. PubMed
  • Kwiatkowski DJ, Choueiri TK, Fay AP, Rini BI, Thorner AR, De Velasco G, Tyburczy M, Hamieh L, Albiges L, Agarwal N, Ho TH, Song J, Pignon JC, Barrios PM, Michaelson MD, Van Allen EM, Krajewski KM, Porta C, Pal SK, Bellmunt J, McDermott DF, Heng DY, Gray KP, Signoretti S. Mutations in TSC1, TSC2, and MTOR are associated with response to rapalogs in patients with metastatic Renal Cell Carcinoma. Clin Cancer Res 2016. PubMed
  • Nathan N, Tyburczy ME, Hamieh L, Wang JA, Brown GT, Richard Lee CC, Kwiatkowski DJ, Moss J, Darling TN. Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex. J Invest Dermatol 2016; 136:535-8. PubMed
  • Guo Y, Dreier JR, Cao J, Du H, Granter SR, Kwiatkowski DJ. Analysis of a Mouse Skin Model of Tuberous Sclerosis Complex. PLoS ONE 2016; 11:e0167384. PubMed
  • Kwiatkowski DJ, Palmer MR, Jozwiak S, Bissler J, Franz D, Segal S, Chen D, Sampson JR. Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. Eur J Hum Genet 2015. PubMed
  • Tyburczy ME, Dies KA, Glass J, Camposano S, Chekaluk Y, Thorner AR, Lin L, Krueger D, Franz DN, Thiele EA, Sahin M, Kwiatkowski DJ. Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS Genet. 2015; 11:e1005637. PubMed
  • Hu Z, Wang Y, Huang F, Chen R, Li C, Wang F, Goto J, Kwiatkowski DJ, Wdzieczak-Bakala J, Tu P, Liu J, Zha X, Zhang H. Brain-expressed X-linked 2 Is Pivotal for Hyperactive Mechanistic Target of Rapamycin (mTOR)-mediated Tumorigenesis. J Biol Chem 2015. PubMed
  • Prabhakar S, Zhang X, Goto J, Han S, Lai C, Bronson R, Sena-Esteves M, Ramesh V, Stemmer-Rachamimov A, Kwiatkowski DJ, Breakefield XO. Survival benefit and phenotypic improvement by hamartin gene therapy in a tuberous sclerosis mouse brain model. Neurobiol Dis 2015; 82:22-31. PubMed
  • Chan K, Roberts SA, Klimczak LJ, Sterling JF, Saini N, Malc EP, Kim J, Kwiatkowski DJ, Fargo DC, Mieczkowski PA, Getz G, Gordenin DA. An APOBEC3A hypermutation signature is distinguishable from the signature of background mutagenesis by APOBEC3B in human cancers. Nat Genet 2015; 47:1067-72. PubMed
  • Sholl LM, Aisner DL, Varella-Garcia M, Berry LD, Dias-Santagata D, Wistuba II, Chen H, Fujimoto J, Kugler K, Franklin WA, Iafrate AJ, Ladanyi M, Kris MG, Johnson BE, Bunn PA, Minna JD, Kwiatkowski DJ, . Multi-institutional Oncogenic Driver Mutation Analysis in Lung Adenocarcinoma: The Lung Cancer Mutation Consortium Experience. J Thorac Oncol 2015. PubMed
  • Tyburczy ME, Jozwiak S, Malinowska IA, Chekaluk Y, Pugh TJ, Wu CL, Nussbaum RL, Seepo S, Dzik T, Kotulska K, Kwiatkowski DJ. A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. Hum Mol Genet 2015; 24:1836-42. PubMed
  • Martin-Doyle W, Kwiatkowski DJ. Molecular biology of bladder cancer. Hematol Oncol Clin North Am 2015; 29:191-203, vii. PubMed
  • D'Gama AM, Geng Y, Couto JA, Martin B, Boyle EA, LaCoursiere CM, Hossain A, Hatem NE, Barry BJ, Kwiatkowski DJ, Vinters HV, Barkovich AJ, Shendure J, Mathern GW, Walsh CA, Poduri A. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol 2015; 77:720-5. PubMed
  • Leech JD, Lammers SH, Goldman S, Auricchio N, Bronson RT, Kwiatkowski DJ, Sahin M. A vascular model of Tsc1 deficiency accelerates renal tumor formation with accompanying hemangiosarcomas. Mol Cancer Res 2015; 13:548-55. PubMed
  • Villaruz LC, Socinski MA, Abberbock S, Berry LD, Johnson BE, Kwiatkowski DJ, Iafrate AJ, Varella-Garcia M, Franklin WA, Camidge DR, Sequist LV, Haura EB, Ladanyi M, Kurland BF, Kugler K, Minna JD, Bunn PA, Kris MG. Clinicopathologic features and outcomes of patients with lung adenocarcinomas harboring BRAF mutations in the Lung Cancer Mutation Consortium. Cancer 2015. PubMed
  • Liu Y, Kwiatkowski DJ. Combined CDKN1A/TP53 mutation in bladder cancer is a therapeutic target. Mol Cancer Ther 2015; 14:174-82. PubMed
  • Malik AR, Liszewska E, Skalecka A, Urbanska M, Iyer AM, Swiech LJ, Perycz M, Parobczak K, Pietruszka P, Zarebska MM, Macias M, Kotulska K, Borkowska J, Grajkowska W, Tyburczy ME, Jozwiak S, Kwiatkowski DJ, Aronica E, Jaworski J. Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase. Acta Neuropathol Commun 2015; 3:48. PubMed
  • Kwiatkowski DJ, Wagle N. mTOR Inhibitors in Cancer: What Can We Learn from Exceptional Responses? EBioMedicine 2015; 2:2-4. PubMed
  • Sun Y, Gallacchi D, Zhang EY, Reynolds SB, Robinson L, Malinowska IA, Chiou TT, Pereira AM, Li C, Kwiatkowski DJ, Lee PS, Yu JJ. Rapamycin-resistant poly (ADP-ribose) polymerase-1 overexpression is a potential therapeutic target in lymphangioleiomyomatosis. Am J Respir Cell Mol Biol 2014. PubMed
  • Liang N, Zhang C, Dill P, Panasyuk G, Pion D, Koka V, Gallazzini M, Olson EN, Lam H, Henske EP, Dong Z, Apte U, Pallet N, Johnson RL, Terzi F, Kwiatkowski DJ, Scoazec JY, Martignoni G, Pende M. Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex. J Exp Med 2014; 211:2249-63. PubMed
  • Wagle N, Grabiner BC, Van Allen EM, Amin-Mansour A, Taylor-Weiner A, Rosenberg M, Gray N, Barletta JA, Guo Y, Swanson SJ, Ruan DT, Hanna GJ, Haddad RI, Getz G, Kwiatkowski DJ, Carter SL, Sabatini DM, Jänne PA, Garraway LA, Lorch JH. Response and acquired resistance to everolimus in anaplastic thyroid cancer. N Engl J Med 2014; 371:1426-33. PubMed
  • Zhang Y, Nicholatos J, Dreier JR, Ricoult SJ, Widenmaier SB, Hotamisligil GS, Kwiatkowski DJ, Manning BD. Coordinated regulation of protein synthesis and degradation by mTORC1. Nature 2014. PubMed
  • Davis CF, Ricketts CJ, Wang M, Yang L, Cherniack AD, Shen H, Buhay C, Kang H, Kim SC, Fahey CC, Hacker KE, Bhanot G, Gordenin DA, Chu A, Gunaratne PH, Biehl M, Seth S, Kaipparettu BA, Bristow CA, Donehower LA, Wallen EM, Smith AB, Tickoo SK, Tamboli P, Reuter V, Schmidt LS, Hsieh JJ, Choueiri TK, Hakimi AA, , Chin L, Meyerson M, Kucherlapati R, Park WY, Robertson AG, Laird PW, Henske EP, Kwiatkowski DJ, Park PJ, Morgan M, Shuch B, Muzny D, Wheeler DA, Linehan WM, Gibbs RA, Rathmell WK, Creighton CJ. The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell 2014; 26:319-30. PubMed
  • Kwiatkowski DJ, Manning BD. Molecular basis of giant cells in tuberous sclerosis complex. N Engl J Med 2014; 371:778-80. PubMed
  • Di Nardo A, Wertz MH, Kwiatkowski E, Tsai PT, Leech JD, Greene-Colozzi E, Goto J, Dilsiz P, Talos DM, Clish CB, Kwiatkowski DJ, Sahin M. Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1. Hum Mol Genet 2014. PubMed
  • Yang P, Cornejo KM, Sadow PM, Cheng L, Wang M, Xiao Y, Jiang Z, Oliva E, Jozwiak S, Nussbaum RL, Feldman AS, Paul E, Thiele EA, Yu JJ, Henske EP, Kwiatkowski DJ, Young RH, Wu CL. Renal cell carcinoma in tuberous sclerosis complex. Am J Surg Pathol 2014; 38:895-909. PubMed
  • Kris MG, Johnson BE, Berry LD, Kwiatkowski DJ, Iafrate AJ, Wistuba II, Varella-Garcia M, Franklin WA, Aronson SL, Su PF, Shyr Y, Camidge DR, Sequist LV, Glisson BS, Khuri FR, Garon EB, Pao W, Rudin C, Schiller J, Haura EB, Socinski M, Shirai K, Chen H, Giaccone G, Ladanyi M, Kugler K, Minna JD, Bunn PA. Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drugs. JAMA 2014; 311:1998-2006. PubMed
  • Tyburczy ME, Wang JA, Li S, Thangapazham R, Chekaluk Y, Moss J, Kwiatkowski DJ, Darling TN. Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. Hum Mol Genet 2014; 23:2023-9. PubMed
  • Riester M, Werner L, Bellmunt J, Selvarajah S, Guancial EA, Weir BA, Stack EC, Park RS, O'Brien R, Schutz FA, Choueiri TK, Signoretti S, Lloreta J, Marchionni L, Gallardo E, Rojo F, Garcia DI, Chekaluk Y, Kwiatkowski DJ, Bochner BH, Hahn WC, Ligon AH, Barletta JA, Loda M, Berman DM, Kantoff PW, Michor F, Rosenberg JE. Integrative analysis of 1q23.3 copy-number gain in metastatic urothelial carcinoma. Clin Cancer Res 2014; 20:1873-83. PubMed
  • Weinstein JN, Akbani R, Broom BM, Wang W, Verhaak RG, McConkey D, Lerner S, Morgan M, Creighton CJ, Smith C, Kwiatkowski DJ, Cherniack AD, Kim J, Sekhar Pedamallu C, Noble MS, Al-Ahmadie HA, Reuter VE, Rosenberg JE, Bajorin DF, Bochner BH, Solit DB, Koppie T, Robinson B, Gordenin DA, Fargo D, Klimczak LJ, Roberts SA, Au J, Laird PW, Hinoue T, Schultz N, Ramirez R, Hansel D, Hoadley KA, Kim WY, Damrauer JS, Baylin SB, Mungall AJ, Robertson AG, Chu A, Kwiatkowski DJ, Sougnez C, Cibulskis K, Lichtenstein L, Sivachenko A, Stewart C, Lawrence MS, Getz G, Lander E, Gabriel SB, Creighton CJ, Donehower L, Cherniack AD, Kim J, Carter SL, Saksena G, Schumacher SE, Sougnez C, Freeman SS, Jung J, Sekhar Pedamallu C, Bhatt AS, Pugh T, Getz G, Beroukhim R, Gabriel SB, Meyerson M, Mungall AJ, Robertson AG, Chu A, Ally A, Balasundaram M, Butterfield YS, Dhalla N, Hirst C, Holt RA, Jones SJ, Lee D, Li HI, Marra MA, Mayo M, Moore RA, Schein JE, Sipahimalani P, Tam A, Thiessen N, Wong T, Wye N, Bowlby R, Chuah E, Guin R, Jones SJ, Marra MA, Hinoue T, Shen H, Bootwalla MS, Triche T, Lai PH, Van Den Berg DJ, Weisenberger DJ, Laird PW, Hansel D, Hoadley KA, Balu S, Bodenheimer T, Damrauer JS, Hoyle AP, Jefferys SR, Meng S, Mose LE, Simons JV, Soloway MG, Wu J, Kim WY, Parker JS, Hayes DN, Roach J, Buda E, Jones CD, Mieczkowski PA, Tan D, Veluvolu U, Waring S, Auman JT, Perou CM, Wilkerson MD, Santoso N, Parfenov M, Ren X, Pantazi A, Hadjipanayis A, Seidman J, Kucherlapati R, Lee S, Yang L, Park PJ, Baylin SB, Wei Xu A, Protopopov A, Zhang J, Bristow C, Mahadeshwar HS, Seth S, Song X, Tang J, Zeng D, Chin L, Guo C, Weinstein JN, Akbani R, Broom BM, McConkey D, Casasent TD, Liu W, Ju Z, Motter T, Peng B, Ryan M, Wang W, Verhaak RG, Su X, Yang JY, Lorenzi PL, Yao H, Zhang N, Zhang J, Mills GB, Kim J, Noble MS, Cho J, DiCara D, Frazer S, Gehlenborg N, Heiman DI, Lin P, Liu Y, Stojanov P, Voet D, Zhang H, Zou L, Chin L, Getz G, Bernard B, Kreisberg D, Reynolds S, Rovira H, Shmulevich I, Ramirez R, Schultz N, Gao J, Jacobsen A, Aksoy BA, Antipin Y, Ciriello G, Dresdner G, Gross B, Lee W, Reva B, Shen R, Sinha R, Sumer SO, Weinhold N, Ladanyi M, Sander C, Benz C, Carlin D, Haussler D, Ng S, Paull EO, Stuart J, Zhu J, Liu Y, Zhang W, Taylor BS, Lichtenberg TM, Zmuda E, Barr T, Black AD, George M, Hanf B, Helsel C, McAllister C, Ramirez NC, Tabler TR, Weaver S, Wise L, Bowen J, Gastier-Foster JM, Weinstein JN, Lerner S, Jian W, Tello S, Ittman M, Castro P, McClenden WD, Morgan M, Gibbs R, Liu Y, Saller C, Tarvin K, DiPiero JM, Owens J, Bollag R, Li Q, Weinberger P, Czerwinski C, Huelsenbeck-Dill L, Iacocca M, Petrelli N, Rabeno B, Swanson P, Shelton T, Curley E, Gardner J, Mallery D, Penny R, Van Bang N, Thi Hanh P, Kohl B, Van Le X, Duc Phu B, Thorp R, Viet Tien N, Quang Vinh L, Sandusky G, Burks E, Christ K, Gee J, Holway A, Moinzadeh A, Sorcini A, Sullivan T, Al-Ahmadie HA, Bajorin DF, Bochner BH, Garcia-Grossman IR, Regazzi AM, Solit DB, Rosenberg JE, Reuter VE, Koppie T, Boice L, Kimryn Rathmell W, Thorne L, Bastacky S, Davies B, Dhir R, Gingrich J, Hrebinko R, Maranchie J, Nelson J, Parwani A, Bshara W, Gaudioso C, Morrison C, Alexopoulou V, Bartlett J, Engel J, Kodeeswaran S, Antic T, O'Donnell PH, Smith ND, Steinberg GD, Egea S, Gomez-Fernandez C, Herbert L, Jorda M, Soloway M, Beaver A, Carter S, Kapur P, Lewis C, Lotan Y, Robinson B, Hansel D, Guo C, Bondaruk J, Czerniak B, Akbani R, Broom BM, Liu Y, Zhang W, Weinstein JN, Lerner S, Morgan M, Kim J, Cherniack AD, Freeman SS, Sekhar Pedamallu C, Noble MS, Kwiatkowski DJ, Al-Ahmadie HA, Bajorin DF, Bochner BH, Solit DB, Rosenberg JE, Reuter VE, Koppie T, Robinson B, Skinner E, Ramirez R, Schultz N, Hansel D, Kim WY, Guo C, Bondaruk J, Aldape K, Czerniak B, Jensen MA, Kahn AB, Pihl TD, Pot DA, Srinivasan D, Wan Y, Ferguson ML, Zenklusen JC, Davidsen T, Demchok JA, Mills Shaw KR, Sheth M, Tarnuzzer R, Wang Z, Yang L, Hutter C, Ozenberger BA, Sofia HJ, Eley G. Comprehensive molecular characterization of urothelial bladder carcinoma. 2014; 507:315-22. PubMed
  • Li C, Lee PS, Sun Y, Gu X, Zhang E, Guo Y, Wu CL, Auricchio N, Priolo C, Li J, Csibi A, Parkhitko A, Morrison T, Planaguma A, Kazani S, Israel E, Xu KF, Henske EP, Blenis J, Levy BD, Kwiatkowski D, Yu JJ. Estradiol and mTORC2 cooperate to enhance prostaglandin biosynthesis and tumorigenesis in TSC2-deficient LAM cells. J Exp Med 2014; 211:15-28. PubMed
  • Li C, Zhang E, Sun Y, Lee PS, Zhan Y, Guo Y, Osorio JC, Rosas IO, Xu KF, Kwiatkowski DJ, Yu JJ. Rapamycin-insensitive up-regulation of adipocyte phospholipase A2 in tuberous sclerosis and lymphangioleiomyomatosis. PLoS ONE 2014; 9:e104809. PubMed
  • Parkhitko AA, Priolo C, Coloff JL, Yun J, Wu JJ, Mizumura K, Xu W, Malinowska IA, Yu J, Kwiatkowski DJ, Locasale JW, Asara JM, Choi AM, Finkel T, Henske EP. Autophagy-dependent metabolic reprogramming sensitizes TSC2-deficient cells to the antimetabolite 6-aminonicotinamide. Mol Cancer Res 2014; 12:48-57. PubMed
  • Liu Y, Marks K, Cowley GS, Carretero J, Liu Q, Nieland TJ, Xu C, Cohoon TJ, Gao P, Zhang Y, Chen Z, Altabef AB, Tchaicha JH, Wang X, Choe S, Driggers EM, Zhang J, Bailey ST, Sharpless NE, Hayes DN, Patel NM, Janne PA, Bardeesy N, Engelman JA, Manning BD, Shaw RJ, Asara JM, Scully R, Kimmelman A, Byers LA, Gibbons DL, Wistuba II, Heymach JV, Kwiatkowski DJ, Kim WY, Kung AL, Gray NS, Root DE, Cantley LC, Wong KK. Metabolic and functional genomic studies identify deoxythymidylate kinase as a target in LKB1-mutant lung cancer. 2013; 3:870-9. PubMed
  • Kwiatkowski D. A biomarker for lymphangioleiomyomatosis. Lancet Respir Med 2013; 1:424-5. PubMed
  • Lindeman NI, Cagle PT, Beasley MB, Chitale DA, Dacic S, Giaccone G, Jenkins RB, Kwiatkowski DJ, Saldivar JS, Squire J, Thunnissen E, Ladanyi M. Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Patho J Thorac Oncol 2013. PubMed
  • Lindeman NI, Cagle PT, Beasley MB, Chitale DA, Dacic S, Giaccone G, Jenkins RB, Kwiatkowski DJ, Saldivar JS, Squire J, Thunnissen E, Ladanyi M, College of American Pathologists International Association for the Study of Lung Cancer and Association for Molecular Pathology. Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Patho J Mol Diagn 2013. PubMed
  • Lindeman NI, Cagle PT, Beasley MB, Chitale DA, Dacic S, Giaccone G, Jenkins RB, Kwiatkowski DJ, Saldivar JS, Squire J, Thunnissen E, Ladanyi M. Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Patho Arch Pathol Lab Med 2013; 137:828-60. PubMed
  • Guo Y, Chekaluk Y, Zhang J, Du J, Gray NS, Wu CL, Kwiatkowski DJ. TSC1 involvement in bladder cancer: diverse effects and therapeutic implications. J Pathol 2013; 230:17-27. PubMed
  • Guo Y, Kwiatkowski DJ. Equivalent benefit of rapamycin and a potent mTOR ATP-competitive inhibitor, MLN0128 (INK128), in a mouse model of tuberous sclerosis. Mol Cancer Res 2013. PubMed
  • Dickson MA, Schwartz GK, Antonescu CR, Kwiatkowski DJ, Malinowska IA. Extrarenal perivascular epithelioid cell tumors (PEComas) respond to mTOR inhibition: clinical and molecular correlates. Int J Cancer 2013. PubMed
  • Badri KR, Gao L, Hyjek E, Schuger N, Schuger L, Qin W, Chekaluk Y, Kwiatkowski DJ, Zhe X. Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis. Am J Respir Crit Care Med 2013; 187:663-5. PubMed
  • Guo Y, Du J, Kwiatkowski DJ. Molecular dissection of AKT activation in lung cancer cell lines. Mol Cancer Res 2013; 11:282-93. PubMed
  • Prabhakar S, Goto J, Zhang X, Zuang X, Sena-Esteves M, Bronson R, Brockmann J, Gianni D, Wojtkiewicz GR, Chen JW, Stemmer-Rachamimov A, Kwiatkowski DJ, Breakefield XO. Stochastic model of Tsc1 lesions in mouse brain. PLoS ONE 2013; 8:e64224. PubMed
  • Tsai PT, Greene-Colozzi E, Goto J, Anderl S, Kwiatkowski DJ, Sahin M. Prenatal rapamycin results in early and late behavioral abnormalities in wildtype C57BL/6 mice. Behav. Genet. 2013; 43:51-9. PubMed
  • Apolo AB, Kwiatkowski DJ. Targeting molecular aberrations in urothelial carcinoma: are we almost there? Am Soc Clin Oncol Educ Book 2013. PubMed
  • Chekaluk Y, Wu CL, Rosenberg J, Riester M, Dai Q, Lin S, Guo Y, McDougal WS, Kwiatkowski DJ. Identification of nine genomic regions of amplification in urothelial carcinoma, correlation with stage, and potential prognostic and therapeutic value. PLoS ONE 2013; 8:e60927. PubMed
  • Prabhakar S, Goto J, Zhang X, Sena-Esteves M, Bronson R, Brockmann J, Gianni D, Wojtkiewicz GR, Chen JW, Stemmer-Rachamimov A, Kwiatkowski DJ, Breakefield XO. Correction: Stochastic Model of Tsc1 Lesions in Mouse Brain. PLoS ONE 2013. PubMed
  • Cardarella S, Ortiz TM, Joshi VA, Butaney M, Jackman DM, Kwiatkowski DJ, Yeap BY, Jänne PA, Lindeman NI, Johnson BE. The introduction of systematic genomic testing for patients with non-small-cell lung cancer. J Thorac Oncol 2012; 7:1767-74. PubMed
  • Yuan E, Tsai PT, Greene-Colozzi E, Sahin M, Kwiatkowski DJ, Malinowska IA. Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features. Hum Mol Genet 2012; 21:4286-300. PubMed
  • Hammerman PS, Lawrence MS, Voet D, Jing R, Cibulskis K, Sivachenko A, Stojanov P, McKenna A, Lander ES, Gabriel S, Getz G, Sougnez C, Imielinski M, Helman E, Hernandez B, Pho NH, Meyerson M, Chu A, Chun HJ, Mungall AJ, Pleasance E, Robertson A, Sipahimalani P, Stoll D, Balasundaram M, Birol I, Butterfield YS, Chuah E, Coope RJ, Corbett R, Dhalla N, Guin R, He A, Hirst C, Hirst M, Holt RA, Lee D, Li HI, Mayo M, Moore RA, Mungall K, Nip KM, Olshen A, Schein JE, Slobodan JR, Tam A, Thiessen N, Varhol R, Zeng T, Zhao Y, Jones SJ, Marra MA, Saksena G, Cherniack AD, Schumacher SE, Tabak B, Carter SL, Pho NH, Nguyen H, Onofrio RC, Crenshaw A, Ardlie K, Beroukhim R, Winckler W, Hammerman PS, Getz G, Meyerson M, Protopopov A, Zhang J, Hadjipanayis A, Lee S, Xi R, Yang L, Ren X, Zhang H, Shukla S, Chen PC, Haseley P, Lee E, Chin L, Park PJ, Kucherlapati R, Socci ND, Liang Y, Schultz N, Borsu L, Lash AE, Viale A, Sander C, Ladanyi M, Auman T, Hoadley KA, Wilkerson MD, Shi Y, Liquori C, Meng S, Li L, Turman YJ, Topal MD, Tan D, Waring S, Buda E, Walsh J, Jones CD, Mieczkowski PA, Singh D, Wu J, Gulabani A, Dolina P, Bodenheimer T, Hoyle AP, Simons JV, Soloway MG, Mose LE, Jefferys SR, Balu S, O'Connor BD, Prins JF, Liu J, Chiang DY, Hayes D, Perou CM, Cope L, Danilova L, Weisenberger DJ, Maglinte DT, Pan F, Van Den Berg DJ, Triche T, Herman JG, Baylin SB, Laird PW, Getz G, Noble M, Voet D, Saksena G, Gehlenborg N, DiCara D, Zhang J, Zhang H, Wu CJ, Liu SY, Lawrence MS, Zou L, Sivachenko A, Lin P, Stojanov P, Jing R, Cho J, Nazaire MD, Robinson J, Thorvaldsdottir H, Mesirov J, Park PJ, Chin L, Schultz N, Sinha R, Ciriello G, Cerami E, Gross B, Jacobsen A, Gao J, Aksoy B, Weinhold N, Ramirez R, Taylor BS, Antipin Y, Reva B, Shen R, Mo Q, Seshan V, Paik PK, Ladanyi M, Sander C, Akbani R, Zhang N, Broom BM, Casasent T, Unruh A, Wakefield C, Cason R, Baggerly KA, Weinstein JN, Haussler D, Benz CC, Stuart JM, Zhu J, Szeto C, Scott GK, Yau C, Ng S, Goldstein T, Waltman P, Sokolov A, Ellrott K, Collisson EA, Zerbino D, Wilks C, Ma S, Craft B, Wilkerson MD, Auman J, Hoadley KA, Du Y, Cabanski C, Walter V, Singh D, Wu J, Gulabani A, Bodenheimer T, Hoyle AP, Simons JV, Soloway MG, Mose LE, Jefferys SR, Balu S, Marron J, Liu Y, Wang K, Liu J, Prins JF, Hayes D, Perou CM, Creighton CJ, Zhang Y, Travis WD, Rekhtman N, Yi J, Aubry MC, Cheney R, Dacic S, Flieder D, Funkhouser W, Illei P, Myers J, Tsao MS, Penny R, Mallery D, Shelton T, Hatfield M, Morris S, Yena P, Shelton C, Sherman M, Paulauskis J, Meyerson M, Baylin SB, Govindan R, Akbani R, Azodo I, Beer D, Bose R, Byers LA, Carbone D, Chang LW, Chiang D, Chu A, Chun E, Collisson E, Cope L, Creighton CJ, Danilova L, Ding L, Getz G, Hammerman PS, Hayes D, Hernandez B, Herman JG, Heymach J, Ida C, Imielinski M, Johnson B, Jurisica I, Kaufman J, Kosari F, Kucherlapati R, Kwiatkowski D, Ladanyi M, Lawrence MS, Maher CA, Mungall A, Ng S, Pao W, Peifer M, Penny R, Robertson G, Rusch V, Sander C, Schultz N, Shen R, Siegfried J, Sinha R, Sivachenko A, Sougnez C, Stoll D, Stuart J, Thomas RK, Tomaszek S, Tsao MS, Travis WD, Vaske C, Weinstein JN, Weisenberger D, Wheeler D, Wigle DA, Wilkerson MD, Wilks C, Yang P, Zhang JJ, Jensen MA, Sfeir R, Kahn AB, Chu AL, Kothiyal P, Wang Z, Snyder EE, Pontius J, Pihl TD, Ayala B, Backus M, Walton J, Baboud J, Berton DL, Nicholls MC, Srinivasan D, Raman R, Girshik S, Kigonya PA, Alonso S, Sanbhadti RN, Barletta SP, Greene JM, Pot DA, Tsao MS, Bandarchi-Chamkhaleh B, Boyd J, Weaver J, Wigle DA, Azodo IA, Tomaszek SC, Aubry MC, Ida CM, Yang P, Kosari F, Brock MV, Rodgers K, Rutledge M, Brown T, Lee B, Shin J, Trusty D, Dhir R, Siegfried JM, Potapova O, Fedosenko KV, Nemirovich-Danchenko E, Rusch V, Zakowski M, Iacocca MV, Brown J, Rabeno B, Czerwinski C, Petrelli N, Fan Z, Todaro N, Eckman J, Myers J, Rathmell W, Thorne LB, Huang M, Boice L, Hill A, Penny R, Mallery D, Curley E, Shelton C, Yena P, Morrison C, Gaudioso C, Bartlett JM, Kodeeswaran S, Zanke B, Sekhon H, David K, Juhl H, Van Le X, Kohl B, Thorp R, Nguyen VT, Nguyen VB, Sussman H, Phu BD, Hajek R, Nguyen PH, Khan KZ, Muley T, Shaw KR, Sheth M, Yang L, Buetow K, Davidsen T, Demchok JA, Eley G, Ferguson M, Dillon LA, Schaefer C, Guyer MS, Ozenberger BA, Palchik JD, Peterson J, Sofia HJ, Thomson E. Comprehensive genomic characterization of squamous cell lung cancers. Nature 2012; 489:519-25. PubMed
  • Imielinski M, Berger AH, Hammerman PS, Hernandez B, Pugh TJ, Hodis E, Cho J, Suh J, Capelletti M, Sivachenko A, Sougnez C, Auclair D, Lawrence MS, Stojanov P, Cibulskis K, Choi K, de Waal L, Sharifnia T, Brooks A, Greulich H, Banerji S, Zander T, Seidel D, Leenders F, Ansén S, Ludwig C, Engel-Riedel W, Stoelben E, Wolf J, Goparju C, Thompson K, Winckler W, Kwiatkowski D, Johnson BE, Jänne PA, Miller VA, Pao W, Travis WD, Pass HI, Gabriel SB, Lander ES, Thomas RK, Garraway LA, Getz G, Meyerson M. Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. Cell 2012; 150:1107-20. PubMed
  • Dibble CC, Elis W, Menon S, Qin W, Klekota J, Asara JM, Finan PM, Kwiatkowski DJ, Murphy LO, Manning BD. TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. Mol Cell 2012; 47:535-46. PubMed
  • Malinowska I, Kwiatkowski DJ, Weiss S, Martignoni G, Netto G, Argani P. Perivascular epithelioid cell tumors (PEComas) harboring TFE3 gene rearrangements lack the TSC2 alterations characteristic of conventional PEComas: further evidence for a biological distinction. Am J Surg Pathol 2012. PubMed
  • van Eeghen AM, Black ME, Pulsifer MB, Kwiatkowski DJ, Thiele EA. Genotype and cognitive phenotype of patients with tuberous sclerosis complex. Eur J Hum Genet 2012. PubMed
  • Menon S, Yecies JL, Zhang HH, Howell JJ, Nicholatos J, Harputlugil E, Bronson RT, Kwiatkowski DJ, Manning BD. Chronic activation of mTOR complex 1 is sufficient to cause hepatocellular carcinoma in mice. Sci Signal 2012; 5:ra24. PubMed
  • Auricchio N, Malinowska I, Shaw R, Manning BD, Kwiatkowski DJ. Therapeutic trial of metformin and bortezomib in a mouse model of tuberous sclerosis complex (TSC). PLoS ONE 2012; 7:e31900. PubMed
  • Malinowska IA, Shepherd CW, Donnelly DE, Hardy R, Clarke R, Kwiatkowski DJ, Morrison PJ. Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events. Oncologist 2012; 17:927-9. PubMed
  • Anderl S, Freeland M, Kwiatkowski DJ, Goto J. Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complex. Hum Mol Genet 2011. PubMed
  • Goto J, Talos DM, Klein P, Qin W, Chekaluk YI, Anderl S, Malinowska IA, Di Nardo A, Bronson RT, Chan JA, Vinters HV, Kernie SG, Jensen FE, Sahin M, Kwiatkowski DJ. Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. Proc Natl Acad Sci U S A 2011; 108:E1070-9. PubMed
  • Parkhitko A, Myachina F, Morrison TA, Hindi KM, Auricchio N, Karbowniczek M, Wu JJ, Finkel T, Kwiatkowski DJ, Yu JJ, Henske EP. Tumorigenesis in tuberous sclerosis complex is autophagy and p62/sequestosome 1 (SQSTM1)-dependent. Proc Natl Acad Sci U S A 2011; 108:12455-60. PubMed
  • Yecies JL, Zhang HH, Menon S, Liu S, Yecies D, Lipovsky AI, Gorgun C, Kwiatkowski DJ, Hotamisligil GS, Lee CH, Manning BD. Akt stimulates hepatic SREBP1c and lipogenesis through parallel mTORC1-dependent and independent pathways. Cell Metab 2011; 14:21-32. PubMed
  • Inoki K, Mori H, Wang J, Suzuki T, Hong S, Yoshida S, Blattner SM, Ikenoue T, Rüegg MA, Hall MN, Kwiatkowski DJ, Rastaldi MP, Huber TB, Kretzler M, Holzman LB, Wiggins RC, Guan KL. mTORC1 activation in podocytes is a critical step in the development of diabetic nephropathy in mice. J Clin Invest 2011; 121:2181-96. PubMed
  • Malhowski AJ, Hira H, Bashiruddin S, Warburton R, Goto J, Robert B, Kwiatkowski DJ, Finlay GA. Smooth muscle protein-22-mediated deletion of Tsc1 results in cardiac hypertrophy that is mTORC1-mediated and reversed by rapamycin. Hum Mol Genet 2011; 20:1290-305. PubMed
  • Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Hum Mutat 2011; 32:424-35. PubMed
  • Sun Q, Chen X, Ma J, Peng H, Wang F, Zha X, Wang Y, Jing Y, Yang H, Chen R, Chang L, Zhang Y, Goto J, Onda H, Chen T, Wang MR, Lu Y, You H, Kwiatkowski D, Zhang H. Mammalian target of rapamycin up-regulation of pyruvate kinase isoenzyme type M2 is critical for aerobic glycolysis and tumor growth. Proc Natl Acad Sci U S A 2011; 108:4129-34. PubMed
  • Qin W, Bajaj V, Malinowska I, Lu X, MacConaill L, Wu CL, Kwiatkowski DJ. Angiomyolipoma have common mutations in TSC2 but no other common genetic events. PLoS ONE 2011; 6:e24919. PubMed
  • Gan B, Lim C, Chu G, Hua S, Ding Z, Collins M, Hu J, Jiang S, Fletcher-Sananikone E, Zhuang L, Chang M, Zheng H, Wang YA, Kwiatkowski DJ, Kaelin WG, Signoretti S, DePinho RA. FoxOs enforce a progression checkpoint to constrain mTORC1-activated renal tumorigenesis. Cancer Cell 2010; 18:472-84. PubMed
  • Qin W, Chan JA, Vinters HV, Mathern GW, Franz DN, Taillon BE, Bouffard P, Kwiatkowski DJ. Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events. Brain Pathol 2010; 20:1096-105. PubMed
  • Kladney RD, Cardiff RD, Kwiatkowski DJ, Chiang GG, Weber JD, Arbeit JM, Lu ZH. Tuberous Sclerosis Complex 1: An Epithelial Tumor Suppressor Essential to Prevent Spontaneous Prostate Cancer in Aged Mice. Cancer Res 2010; 70:8937-47. PubMed
  • Ercan D, Zejnullahu K, Yonesaka K, Xiao Y, Capelletti M, Rogers A, Lifshits E, Brown A, Lee C, Christensen JG, Kwiatkowski DJ, Engelman JA, Jänne PA. Amplification of EGFR T790M causes resistance to an irreversible EGFR inhibitor. Oncogene 2010; 29:2346-56. PubMed
  • Qin W, Kozlowski P, Taillon BE, Bouffard P, Holmes AJ, Janne P, Camposano S, Thiele E, Franz D, Kwiatkowski DJ. Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. Hum Genet 2010; 127:573-82. PubMed
  • Kwiatkowski DJ. Animal Models of Lymphangioleiomyomatosis (LAM) and Tuberous Sclerosis Complex (TSC). Lymphat Res Biol 2010; 8:51-7. PubMed
  • Wagner AJ, Malinowska-Kolodziej I, Morgan JA, Qin W, Fletcher CD, Vena N, Ligon AH, Antonescu CR, Ramaiya NH, Demetri GD, Kwiatkowski DJ, Maki RG. Clinical activity of mTOR inhibition with sirolimus in malignant perivascular epithelioid cell tumors: targeting the pathogenic activation of mTORC1 in tumors. J Clin Oncol 2010; 28:835-40. PubMed
  • Lee PS,Tsang SW,Moses MA,Trayes-Gibson Z,Hsiao LL,Jensen R,Squillace R,Kwiatkowski DJ. Rapamycin-insensitive Up-regulation of MMP2 and Other Genes in TSC2-deficient LAM-like Cells. Am J Respir Cell Mol Biol 2010; 42:227-34. PubMed
  • Ma J, Meng Y, Kwiatkowski DJ, Chen X, Peng H, Sun Q, Zha X, Wang F, Wang Y, Jing Y, Zhang S, Chen R, Wang L, Wu E, Cai G, Malinowska-Kolodziej I, Liao Q, Liu Y, Zhao Y, Sun Q, Xu K, Dai J, Han J, Wu L, Zhao RC, Shen H, Zhang H. Mammalian target of rapamycin regulates murine and human cell differentiation through STAT3/p63/Jagged/Notch cascade. J Clin Invest 2010; 120:103-14. PubMed
  • Malinowska-Kolodziej I, Finlay G, Campbell G, Garcia-Moliner ML, Weinstein B, Doughty CA, Qin W, Butterfield C, Short S, Seyama K, Kwiatkowski DJ. Lymphangioleiomyomatosis: cause of a malignant chylous pleural effusion. J Clin Oncol 2010; 28:e4-6. PubMed
  • Marcinkowska M, Wong KK, Kwiatkowski DJ, Kozlowski P. Design and generation of MLPA probe sets for combined copy number and small-mutation analysis of human genes: EGFR as an example. ScientificWorldJournal 2010; 10:2003-18. PubMed
  • Lee PS, Wilhelmson AS, Hubner AP, Reynolds SB, Gallacchi DA, Chiou TT, Kwiatkowski DJ. mTORC1-S6K activation by endotoxin contributes to cytokine up-regulation and early lethality in animals. PLoS ONE 2010; 5:e14399. PubMed
  • Folpe AL, Kwiatkowski DJ. Perivascular epithelioid cell neoplasms: pathology and pathogenesis. Hum Pathol 2010; 41:1-15. PubMed
  • Le Caignec C,Kwiatkowski DJ,Kury S,Hardouin JB,Melki J,David A. Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. Eur J Hum Genet 2009; 17:1165-70. PubMed
  • Paul S, Su S, Edenfield H, Kwiatkowski DJ, Bueno R. Treatment of refractory lymphangioleiomyomatosis-associated chylous effusion with a pleuroperitoneal window and omental flap. J Thorac Cardiovasc Surg 2009; 138:497-8. PubMed
  • Pollizzi K,Malinowska-Kolodziej I,Doughty C,Betz C,Ma J,Goto J,Kwiatkowski DJ. A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles. Hum Mol Genet 2009; 18:2378-87. PubMed
  • Finlay GA, Malhowski AJ, Polizzi K, Malinowska-Kolodziej I, Kwiatkowski DJ. Renal and liver tumors in Tsc2(+/-) mice, a model of tuberous sclerosis complex, do not respond to treatment with atorvastatin, a 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor. Mol Cancer Ther 2009; 8:1799-807. PubMed
  • Di Nardo A,Kramvis I,Cho N,Sadowski A,Meikle L,Kwiatkowski DJ,Sahin M. Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner. J Neurosci 2009; 29:5926-37. PubMed
  • Wingo SN,Gallardo TD,Akbay EA,Liang MC,Contreras CM,Boren T,Shimamura T,Miller DS,Sharpless NE,Bardeesy N,Kwiatkowski DJ,Schorge JO,Wong KK,Castrillon DH. Somatic LKB1 mutations promote cervical cancer progression. PLoS ONE 2009; 4:e5137. PubMed
  • Gan B,Sahin E,Jiang S,Sanchez-Aguilera A,Scott KL,Chin L,Williams DA,Kwiatkowski DJ,DePinho RA. mTORC1-dependent and -independent regulation of stem cell renewal, differentiation, and mobilization. Proc Natl Acad Sci U S A 2008; 105:19384-9. PubMed
  • Kozlowski P,Jasinska AJ,Kwiatkowski DJ. New applications and developments in the use of multiplex ligation-dependent probe amplification. Electrophoresis 2008; 29:4627-36. PubMed
  • Choi YJ,Di Nardo A,Kramvis I,Meikle L,Kwiatkowski DJ,Sahin M,He X. Tuberous sclerosis complex proteins control axon formation. Genes Dev 2008; 22:2485-95. PubMed
  • Traykova-Brauch M,Schonig K,Greiner O,Miloud T,Jauch A,Bode M,Felsher DW,Glick AB,Kwiatkowski DJ,Bujard H,Horst J,von Knebel Doeberitz M,Niggli FK,Kriz W,Grone HJ,Koesters R. An efficient and versatile system for acute and chronic modulation of renal tubular function in transgenic mice. Nat Med 2008; 14:979-84. PubMed
  • Sawada N,Salomone S,Kim HH,Kwiatkowski DJ,Liao JK. Regulation of endothelial nitric oxide synthase and postnatal angiogenesis by Rac1. Circ Res 2008; 103:360-8. PubMed
  • Ehninger D,Han S,Shilyansky C,Zhou Y,Li W,Kwiatkowski DJ,Ramesh V,Silva AJ. Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med 2008; 14:843-8. PubMed
  • Hong F,Larrea MD,Doughty C,Kwiatkowski DJ,Squillace R,Slingerland JM. mTOR-raptor binds and activates SGK1 to regulate p27 phosphorylation. Mol Cell 2008; 30:701-11. PubMed
  • Meikle L,Pollizzi K,Egnor A,Kramvis I,Lane H,Sahin M,Kwiatkowski DJ. Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function. J Neurosci 2008; 28:5422-32. PubMed
  • Talos DM, Kwiatkowski DJ, Cordero K, Black PM, Jensen FE. Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers. Ann Neurol 2008; 63:454-65. PubMed
  • Kozlowski P, Bissler J, Pei Y, Kwiatkowski DJ. Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: Absence of hot spots. Genomics 2008; 91:203-8. PubMed
  • Lyczkowski DA, Conant KD, Pulsifer MB, Jarrett DY, Grant PE, Kwiatkowski DJ, Thiele EA. Intrafamilial phenotypic variability in tuberous sclerosis complex. J Child Neurol 2007; 22:1348-55. PubMed
  • Finlay GA, Malhowski AJ, Liu Y, Fanburg BL, Kwiatkowski DJ, Toksoz D. Selective inhibition of growth of tuberous sclerosis complex 2 null cells by atorvastatin is associated with impaired Rheb and Rho GTPase function and reduced mTOR/S6 kinase activity. Cancer Res 2007; 67:9878-86. PubMed
  • Ji H, Ramsey MR, Hayes DN, Fan C, McNamara K, Kozlowski P, Torrice C, Wu MC, Shimamura T, Perera SA, Liang MC, Cai D, Naumov GN, Bao L, Contreras CM, Li D, Chen L, Krishnamurthy J, Koivunen J, Chirieac LR, Padera RF, Bronson RT, Lindeman NI, Christiani DC, Lin X, Shapiro GI, Janne PA, Johnson BE, Meyerson M, Kwiatkowski DJ, Castrillon DH, Bardeesy N, Sharpless NE, Wong KK. LKB1 modulates lung cancer differentiation and metastasis. Nature 2007; 448:807-10. PubMed
  • Meikle L, Talos DM, Onda H, Pollizzi K, Rotenberg A, Sahin M, Jensen FE, Kwiatkowski DJ. A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. J Neurosci 2007; 27:5546-58. PubMed
  • Kozlowski P, Lin M, Meikle L, Kwiatkowski DJ. Robust method for distinguishing heterozygous from homozygous transgenic alleles by multiplex ligation-dependent probe assay. Biotechniques 2007; 42:584, 586, 588. PubMed
  • Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska-Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ. Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet 2007; 121:389-400. PubMed
  • Juvet SC, McCormack FX, Kwiatkowski DJ, Downey GP. Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans. Am J Respir Cell Mol Biol 2007; 36:398-408. PubMed
  • Zhang H, Bajraszewski N, Wu E, Wang H, Moseman AP, Dabora SL, Griffin JD, Kwiatkowski DJ. PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR. J Clin Invest 2007; 117:730-8. PubMed
  • Feng Y, Chen MH, Moskowitz IP, Mendonza AM, Vidali L, Nakamura F, Kwiatkowski DJ, Walsh CA. Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis. Proc Natl Acad Sci U S A 2006; 103:19836-41. PubMed
  • Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, Wilkinson R, Melanson D, Tampieri D, Koenekoop R, Gans M, Maat-Kievit A, Goedbloed M, van den Ouweland AM, Nellist M, Pandolfo M, McQueen M, Sims K, Thiele EA, Dubeau F, Andermann F, Kwiatkowski DJ, Halley DJ, Andermann E. Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Ann Neurol 2006; 60:528-39. PubMed
  • Vidali L, Chen F, Cicchetti G, Ohta Y, Kwiatkowski DJ. Rac1-null mouse embryonic fibroblasts are motile and respond to platelet-derived growth factor. Mol Biol Cell 2006; 17:2377-90. PubMed
  • Moran JL, Bolton AD, Tran PV, Brown A, Dwyer ND, Manning DK, Bjork BC, Li C, Montgomery K, Siepka SM, Vitaterna MH, Takahashi JS, Wiltshire T, Kwiatkowski DJ, Kucherlapati R, Beier DR. Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. Genome Res 2006; 16:436-40. PubMed
  • Brown AB, Mahmood U, Cortes ML, Tang Y, Dai G, Stemmer-Rachamimov A, Prabhakar S, Leishear K, Onda H, Kwiatkowski D, Weissleder R, Breakefield X. Magnetic resonance imaging and characterization of spontaneous lesions in a transgenic mouse model of tuberous sclerosis as a model for endothelial cell-based transgene delivery. Hum Gene Ther 2005; 16:1367-76. PubMed
  • Józwiak S, Domanska-Pakiela D, Kwiatkowski DJ, Kotulska K. Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex: case report with molecular confirmation. J Child Neurol 2005; 20:988-9. PubMed
  • Kayyali US, Larsen CG, Bashiruddin S, Lewandowski SL, Trivedi CM, Warburton RR, Parkhitko AA, Morrison TA, Henske EP, Chekaluk Y, Kwiatkowski DJ, Finlay GA. Targeted deletion of Tsc1 causes fatal cardiomyocyte hyperplasia independently of afterload. Cardiovasc Pathol ; 24:80-93. PubMed
Hide
Visualize Collaborations
Learn how these members are similar
Similar Members

DF/HCC members that share similar concepts* with David J. Kwiatkowski, MD, PhD but have yet to coauthor a publication with this researcher.

* Concepts are MeSH terms, automatically derived from member publications

Similar Members