Novel oncogene and tumor suppressor mutations in KIT and PDGFRA wild type gastrointestinal stromal tumors revealed by next generation sequencing

Genes Chromosomes and Cancer

Volumn 54, Issue 3, 2015, Pages 177-184

  Hechtman, Jaclyn Frances ^a   Zehir, Ahmet ^a   Mitchell, Talia ^a   Borsu, Laetitia ^a   Singer, Samuel ^a   Tap, William ^a   Oultache, Alifya ^a   Ladanyi, Marc ^a   Nafa, Khedoudja ^a  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

IMATINIB; KRAS PROTEIN, HUMAN; ONCOPROTEIN; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; RAS PROTEIN; STEM CELL FACTOR RECEPTOR;

ADULT; AGED; ARIDIA GENE; ARTICLE; CLINICAL ARTICLE; FEMALE; GASTROINTESTINAL STROMAL TUMOR; GENE MUTATION; GENE SEQUENCE; HUMAN; IMMUNOHISTOCHEMISTRY; KIT GENE; KRAS GENE; MALE; MIDDLE AGED; ONCOGENE; PDGFRA GENE; PRIORITY JOURNAL; TP53 GENE; TUMOR SUPPRESSOR GENE; WILD TYPE; GENETICS; HIGH THROUGHPUT SEQUENCING; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ADULT; AGED; DNA MUTATIONAL ANALYSIS; FEMALE; GASTROINTESTINAL STROMAL TUMORS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MIDDLE AGED; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-KIT; RAS PROTEINS; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA;

EID: 84921464373     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.22230     Document Type: Article

References (27)

1. Alarcon-Vargas D, Ronai Z. 2002. p53-Mdm2--the affair that never ends. Carcinogenesis 23:541-547.
2. Antonescu CR, Romeo S, Zhang L, Nafa K, Hornick JL, Nielsen GP, Mino-Kenudson M, Huang HY, Mosquera JM, Dei Tos PA, Fletcher CD. 2013. Dedifferentiation in gastrointestinal stromal tumor to an anaplastic KIT-negative phenotype: A diagnostic pitfall: Morphologic and molecular characterization of 8 cases occurring either de novo or after imatinib therapy. Am J Surg Pathol 37:385-392.
3. Arcila M, Lau C, Nafa K, Ladanyi M. 2011. Detection of KRAS and BRAF mutations in colorectal carcinoma roles for high-sensitivity locked nucleic acid-PCR sequencing and broad-spectrum mass spectrometry genotyping. J Mol Diagn 13:64-73.
4. Braconi C, Bracci R, Bearzi I, Bianchi F, Sabato S, Mandolesi A, Belvederesi L, Cascinu S, Valeri N, Cellerino R. 2008. Insulin-like growth factor (IGF) 1 and 2 help to predict disease outcome in GIST patients. Ann Oncol 19:1293-1298.
5. Chaft JE, Arcila ME, Paik PK, Lau C, Riely GJ, Pietanza MC, Zakowski MF, Rusch V, Sima CS, Ladanyi M, Kris MG. 2012. Coexistence of PIK3CA and other oncogene mutations in lung adenocarcinoma-rationale for comprehensive mutation profiling. Mol Cancer Ther 11:485-491.
6. Cheng DT, Mitchell T, Zehir A, Shah RH, Benayed R, Syed A, Chandramohan R, Liu ZY, Won HH, Scott SN, Brannon AR, O'Reilly C, Sadowska J, Casanova J, Yannes A, Hechtman JF, Yao J, Song W, Ross D, Oultache A, Dogan S, Borsu L, Hameed M, Nafa K, Arcila ME, Ladanyi M, Berger MF. MSK-IMPACT: A hybridization capture-based next generation sequencing clinical assay for solid tumor molecular oncology. J Mol Diagn (in press).
7. Cibulskis K, Lawrence MS, Carter SL, Sivachenko A, Jaffe D, Sougnez C, Gabriel S, Meyerson M, Lander ES, Getz G. 2013. Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat Biotechnol 31:213-219.
8. Dogan S, Shen R, Ang DC, Johnson ML, D'Angelo SP, Paik PK, Brzostowski EB, Riely GJ, Kris MG, Zakowski MF, Ladanyi M. 2012. Molecular epidemiology of EGFR and KRAS mutations in 3, 026 lung adenocarcinomas: Higher susceptibility of women to smoking-related KRAS-mutant cancers. Clin Cancer Res 18:6169-6177.
9. Edderkaoui M, Thrower E. 2013. Smoking and Pancreatic Disease. J Cancer Ther 4:34-40.
10. Falchook GS, Trent JC, Heinrich MC, Beadling C, Patterson J, Bastida CC, Blackman SC, Kurzrock R. 2013. BRAF mutant gastrointestinal stromal tumor: First report of regression with BRAF inhibitor dabrafenib (GSK2118436) and whole exomic sequencing for analysis of acquired resistance. Oncotarget 4:310-315.
11. Jelinic P, Mueller JJ, Olvera N, Dao F, Scott SN, Shah R, Gao J, Schultz N, Gonen M, Soslow RA, Berger MF, Levine DA. 2014. Recurrent SMARCA4 mutations in small cell carcinoma of the ovary. Nat Genet 46:424-426.
12. Lasota J, Xi L, Coates T, Dennis R, Evbuomwan MO, Wang ZF, Raffeld M, Miettinen M. 2013. No KRAS mutations found in gastrointestinal stromal tumors (GISTs): Molecular genetic study of 514 cases. Mod Pathol 26:1488-1491.
13. Li H, Durbin R. 2010. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 26:589-595.
14. Liang PS, Chen TY, Giovannucci E. 2009. Cigarette smoking and colorectal cancer incidence and mortality: Systematic review and meta-analysis. Int J Cancer 124:2406-2415.
15. Miettinen M, Lasota J. 2006. Gastrointestinal stromal tumors: Review on morphology, molecular pathology, prognosis, and differential diagnosis. Arch Pathol Lab Med 130:1466-1478.
16. Miranda C, Nucifora M, Molinari F, Conca E, Anania MC, Bordoni A, Saletti P, Mazzucchelli L, Pilotti S, Pierotti MA, Tamborini E, Greco A, Frattini M. 2012. KRAS and BRAF mutations predict primary resistance to imatinib in gastrointestinal stromal tumors. Clin Cancer Res 18:1769-1776.
17. Molina-Arcas M, Hancock DC, Sheridan C, Kumar MS, Downward J. 2013. Coordinate direct input of both KRAS and IGF1 receptor to activation of PI3 kinase in KRAS-mutant lung cancer. Cancer Discov 3:548-563.
18. Olshen AB, Venkatraman ES, Lucito R, Wigler M. 2004. Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics 5:557-572.
19. Pan Q, Pao W, Ladanyi M. 2005. Rapid polymerase chain reaction-based detection of epidermal growth factor receptor gene mutations in lung adenocarcinomas. J Mol Diagn 7:396-403.
20. Robinson JT, Thorvaldsdóttir H, Winckler W, Guttman M, Lander ES, Getz G, Mesirov JP. 2011. Integrative genomics viewer. Nat Biotechnol 29:24-26.
21. Romeo S, Debiec-Rychter M, Van Glabbeke M, Van Paassen H, Comite P, Van Eijk R, Oosting J, Verweij J, Terrier P, Schneider U, Sciot R, Blay JY, Hogendoorn PC; European Organization for Research and Treatment of Cancer Soft Tissue and Bone Sarcoma Group. 2009. Cell cycle/apoptosis molecule expression correlates with imatinib response in patients with advanced gastrointestinal stromal tumors. Clin Cancer Res 15:4191-4198.
22. Samartzis EP, Gutsche K, Dedes KJ, Fink D, Stucki M, Imesch P. 2014. Loss of ARID1A expression sensitizes cancer cells to PI3K- and AKT-inhibition. Oncotarget. Epub ahead of print.
23. Schoppmann SF, Vinatzer U, Popitsch N, Mittlböck M, Liebmann-Reindl S, Jomrich G, Streubel B, Birner P. 2013. Novel clinically relevant genes in gastrointestinal stromal tumors identified by exome sequencing. Clin Cancer Res 19:5329-5339.
24. Serrano C, Wang Y, Mariño-Enríquez A, Lee JC, Ravegnini G, Morgan JA, Bertagnolli MM, Beadling C, Demetri GD, Corless CL, Heinrich MC, Fletcher JA. KRAS and KIT Gatekeeper Mutations Confer Polyclonal Primary Imatinib Resistance in GI Stromal Tumors: Relevance of Concomitant Phosphatidylinositol 3-Kinase/AKT Dysregulation. J Clin Oncol. Epub ahead of print.
25. Wang JH, Lasota J, Miettinen M. 2011. Succinate Dehydrogenase Subunit B (SDHB) is expressed in Neurofibromatosis 1-associated gastrointestinal stromal tumors(Gists): Implications for the SDHB expression based classification of GISTs. J Cancer 2:90-93.
26. Yu H, Rohan T. 2000. Role of the insulin-like growth factor family in cancer development and progression. J Natl Cancer Inst 92:1472-1489.
27. Zimmermann G, Papke B, Ismail S, Vartak N, Chandra A, Hoffmann M, Hahn SA, Triola G, Wittinghofer A, Bastiaens PI, Waldmann H. 2013. Small molecule inhibition of the KRAS-PDEδ interaction impairs oncogenic KRAS signalling. Nature 497:638-642.