Frequent PIK3CA Mutations in Colorectal and Endometrial Tumors With 2 or More Somatic Mutations in Mismatch Repair Genes

Gastroenterology

Volumn 151, Issue 3, 2016, Pages 440-447.e1

  Cohen, Stacey A ^a,b   Turner, Emily H ^a   Beightol, Mallory B ^a   Jacobson, Angela ^a   Gooley, Ted A ^b   Salipante, Stephen J ^a   Haraldsdottir, Sigurdis ^e   Smith, Christina ^a   Scroggins, Sheena ^a   Tait, Jonathan F ^a   Grady, William M ^a,b   Lin, Edward H ^a,b   Cohn, David E ^c   Goodfellow, Paul J ^c   Arnold, Mark W ^f   de la Chapelle, Albert ^c   Pearlman, Rachel ^d   Hampel, Heather ^d   Pritchard, Colin C ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b USA   (United States)

^c OHIO STATE UNIVERSITY   (United States)

^d OHIO STATE UNIVERSITY   (United States)

^e STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

Lynch Like Syndrome; MMR; MSI; PI3K

Indexed keywords

B RAF KINASE; EPIDERMAL GROWTH FACTOR RECEPTOR; K RAS PROTEIN; MISMATCH REPAIR PROTEIN PMS2; PHOSPHATIDYLINOSITOL 3 KINASE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; BRAF PROTEIN, HUMAN; GUANOSINE TRIPHOSPHATASE; KRAS PROTEIN, HUMAN; MEMBRANE PROTEIN; NRAS PROTEIN, HUMAN; PIK3CA PROTEIN, HUMAN; PROTEIN P21; PTEN PROTEIN, HUMAN;

ARTICLE; CANCER PATIENT; COHORT ANALYSIS; COLORECTAL CANCER; CONTROLLED STUDY; DNA METHYLATION; DOUBLE SOMATIC COLORECTAL AND ENDOMETRIAL CANCER; ENDOMETRIUM CANCER; FEMALE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MAJOR CLINICAL STUDY; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MOLECULAR GENETICS; MUTATION RATE; MUTATIONAL ANALYSIS; MUTATOR GENE; NEXT GENERATION SEQUENCING; ONCOGENE N RAS; PHENOTYPE; PIK3CA GENE; PREVALENCE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SOMATIC MUTATION; TUMOR GENE; COLORECTAL TUMOR; DNA MUTATIONAL ANALYSIS; ENDOMETRIUM TUMOR; GENETICS; MALE; MUTATION; PROSPECTIVE STUDY;

COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; DNA MUTATIONAL ANALYSIS; ENDOMETRIAL NEOPLASMS; FEMALE; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MEMBRANE PROTEINS; MICROSATELLITE INSTABILITY; MUTATION; PHENOTYPE; PHOSPHATIDYLINOSITOL 3-KINASES; PROSPECTIVE STUDIES; PROTO-ONCOGENE PROTEINS B-RAF; PROTO-ONCOGENE PROTEINS P21(RAS); PTEN PHOSPHOHYDROLASE;

EID: 84995487903     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2016.06.004     Document Type: Article

References (45)

1. 1 Haraldsdottir, S., Hampel, H., Tomsic, J., et al. Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. Gastroenterology 147 (2014), 1308–1316 e1.
2. 2 Senter, L., Genetic testing by cancer site: colon (nonpolyposis syndromes). Cancer J 18 (2012), 334–337.
3. 3 Lynch, H.T., de la Chapelle, A., Hereditary colorectal cancer. N Engl J Med 348 (2003), 919–932.
4. 4 Vasen, H.F., Watson, P., Mecklin, J.P., et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116 (1999), 1453–1456.
5. 5 Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med 11 (2009), 35–41.
6. 6 Boland, C.R., Goel, A., Microsatellite instability in colorectal cancer. Gastroenterology 138 (2010), 2073–2087 e3.
7. 7 Buchanan, D.D., Rosty, C., Clendenning, M., et al. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome). Appl Clin Genet 7 (2014), 183–193.
8. 8 Rodriguez-Soler, M., Perez-Carbonell, L., Guarinos, C., et al. Risk of cancer in cases of suspected Lynch syndrome without germline mutation. Gastroenterology 144 (2013), 926–932 e1 quiz e13–4.
9. 9 Kang, S.Y., Park, C.K., Chang, D.K., et al. Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers. Int J Cancer 136 (2015), 1568–1578.
10. 10 Mas-Moya, J., Dudley, B., Brand, R.E., et al. Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome. Hum Pathol 46 (2015), 1616–1625.
11. 11 Mills, A.M., Sloan, E.A., Thomas, M., et al. Clinicopathologic comparison of Lynch syndrome-associated and “Lynch-like” endometrial carcinomas identified on universal screening using mismatch repair protein immunohistochemistry. Am J Surg Pathol 40 (2016), 155–165.
12. 12 Carethers, J.M., Differentiating Lynch-like from Lynch syndrome. Gastroenterology 146 (2014), 602–604.
13. 13 Sourrouille, I., Coulet, F., Lefevre, J.H., et al. Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors. Fam Cancer 12 (2013), 27–33.
14. 14 Geurts-Giele, W.R., Leenen, C.H., Dubbink, H.J., et al. Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers. J Pathol 234 (2014), 548–559.
15. 15 Mensenkamp, A.R., Vogelaar, I.P., van Zelst-Stams, W.A., et al. Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors. Gastroenterology 146 (2014), 643–646 e8.
16. 16 The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines(r)) for genetic/familial high-risk assessment: Colorectal V.1.2014. Available from: www.nccn.org. Accessed: March 21, 2014.
17. 17 Le, D.T., Uram, J.N., Wang, H., et al. PD-1 blockade in tumors with mismatch-repair deficiency. N Engl J Med 372 (2015), 2509–2520.
18. 18 Salipante, S.J., Scroggins, S.M., Hampel, H.L., et al. Microsatellite instability detection by next generation sequencing. Clin Chem 60 (2014), 1192–1199.
19. 19 University of Washington Department of Laboratory Medicine. UW-OncoPlex - cancer gene panel. Available from: http://tests.labmed.washington.edu/UW-OncoPlex. Accessed: June 1, 2016.
20. 20 Pritchard, C.C., Salipante, S.J., Koehler, K., et al. Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens. J Mol Diagn 16 (2014), 56–67.
21. 21 Richards, S., Aziz, N., Bale, S., et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17 (2015), 405–424.
22. 22 Domingo, E., Niessen, R.C., Oliveira, C., et al. BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes. Oncogene 24 (2005), 3995–3998.
23. 23 Huang, H., Lin, M., Tseng, L., et al. Ovarian and endometrial endometrioid adenocarcinomas have distinct profiles of microsatellite instability, PTEN expression, and ARID1A expression. Histopathology 66 (2015), 517–528.
24. 24 Thoury, A., Descatoire, V., Kotelevets, L., et al. Evidence for different expression profiles for c-Met, EGFR, PTEN and the mTOR pathway in low and high grade endometrial carcinomas in a cohort of consecutive women. Occurrence of PIK3CA and K-Ras mutations and microsatellite instability. Histol Histopathol 29 (2014), 1455–1466.
25. 25 Day, F.L., Jorissen, R.N., Lipton, L., et al. PIK3CA and PTEN gene and exon mutation-specific clinicopathologic and molecular associations in colorectal cancer. Clin Cancer Res 19 (2013), 3285–3296.
26. 26 Kloth, M., Ruesseler, V., Engel, C., et al. Activating ERBB2/HER2 mutations indicate susceptibility to pan-HER inhibitors in Lynch and Lynch-like colorectal cancer. Gut 65 (2016), 1296–1305.
27. 27 Rudd, M.L., Price, J.C., Fogoros, S., et al. A unique spectrum of somatic PIK3CA (p110alpha) mutations within primary endometrial carcinomas. Clin Cancer Res 17 (2011), 1331–1340.
28. 28 Cancer Genome Atlas Research Network, Kandoth, C., Schultz, N., et al. Integrated genomic characterization of endometrial carcinoma. Nature 497 (2013), 67–73.
29. 29 Samuels, Y., Wang, Z., Bardelli, A., et al. High frequency of mutations of the PIK3CA gene in human cancers. Science, 304, 2004, 554.
30. 30 Rosty, C., Young, J.P., Walsh, M.D., et al. PIK3CA activating mutation in colorectal carcinoma: associations with molecular features and survival. PLoS One, 8, 2013, e65479.
31. 31 Metcalf, A.M., Spurdle, A.B., Endometrial tumour BRAF mutations and MLH1 promoter methylation as predictors of germline mismatch repair gene mutation status: a literature review. Fam Cancer 13 (2014), 1–12.
32. 32 Briggs, S., Tomlinson, I., Germline and somatic polymerase epsilon and delta mutations define a new class of hypermutated colorectal and endometrial cancers. J Pathol 230 (2013), 148–153.
33. 33 De Roock, W., Claes, B., Bernasconi, D., et al. Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. Lancet Oncol 11 (2010), 753–762.
34. 34 Huang, L., Liu, Z., Deng, D., et al. Anti-epidermal growth factor receptor monoclonal antibody-based therapy for metastatic colorectal cancer: a meta-analysis of the effect of PIK3CA mutations in KRAS wild-type patients. Arch Med Sci 10 (2014), 1–9.
35. 35 Rodon, J., Brana, I., Siu, L.L., et al. Phase I dose-escalation and -expansion study of buparlisib (BKM120), an oral pan-class I PI3K inhibitor, in patients with advanced solid tumors. Invest New Drugs 32 (2014), 670–681.
36. 36 Ganesan, P., Janku, F., Naing, A., et al. Target-based therapeutic matching in early-phase clinical trials in patients with advanced colorectal cancer and PIK3CA mutations. Mol Cancer Ther 12 (2013), 2857–2863.
37. 37 Kim, A., Lee, J.E., Lee, S.S., et al. Coexistent mutations of KRAS and PIK3CA affect the efficacy of NVP-BEZ235, a dual PI3K/MTOR inhibitor, in regulating the PI3K/MTOR pathway in colorectal cancer. Int J Cancer 133 (2013), 984–996.
38. 38 Vilar, E., Mukherjee, B., Kuick, R., et al. Gene expression patterns in mismatch repair-deficient colorectal cancers highlight the potential therapeutic role of inhibitors of the phosphatidylinositol 3-kinase-AKT-mammalian target of rapamycin pathway. Clin Cancer Res 15 (2009), 2829–2839.
39. 39 Chan, A.T., Ogino, S., Fuchs, C.S., Aspirin use and survival after diagnosis of colorectal cancer. JAMA 302 (2009), 649–658.
40. 40 Rothwell, P.M., Wilson, M., Elwin, C.E., et al. Long-term effect of aspirin on colorectal cancer incidence and mortality: 20-year follow-up of five randomised trials. Lancet 376 (2010), 1741–1750.
41. 41 Burn, J., Bishop, D.T., Mecklin, J.P., et al. Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. N Engl J Med 359 (2008), 2567–2578.
42. 42 Burn, J., Gerdes, A.M., Macrae, F., et al. Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet 378 (2011), 2081–2087.
43. 43 Oda, K., Stokoe, D., Taketani, Y., et al. High frequency of coexistent mutations of PIK3CA and PTEN genes in endometrial carcinoma. Cancer Res 65 (2005), 10669–10673.
44. 44 Cerami, E., Gao, J., Dogrusoz, U., et al. The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data. Cancer Discov 2 (2012), 401–404.
45. 45 Gao, J., Aksoy, B.A., Dogrusoz, U., et al. Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal. Sci Signal, 6, 2013, pl1.