Extreme outlier analysis identifies occult mitogen- activated protein kinase pathway mutations in patients with low-grade serous ovarian cancer

Journal of Clinical Oncology

Volumn 33, Issue 34, 2015, Pages 4099-4105

  Grisham, Rachel N ^a,b   Sylvester, Brooke E ^a   Won, Helen ^a   McDermott, Gregory ^a   DeLair, Deborah ^a   Ramirez, Ricardo ^c   Yao, Zhan ^a   Shen, Ronglai ^a   Dao, Fanny ^a   Bogomolniy, Faina ^a   Makker, Vicky ^a   Sala, Evis ^a   Soumerai, Tara E ^a   Hyman, David M ^a,b   Socci, Nicholas D ^d   Viale, Agnes ^d   Gershenson, David M ^b,e   Farley, John ^f   Levine, Douglas A ^a   Rosen, Neal ^a   Berger, Michael F ^a,d   Spriggs, David R ^a   Aghajanian, Carol A ^a   Solit, David B ^a,d   Iyer, Gopa ^a   more..

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^b WEILL CORNELL MEDICAL COLLEGE   (United States)

^c Yale Graduate School of Arts and Sciences   (United States)

^d Molecular Cardiology Program   (United States)

^e UNIVERSITY OF TEXAS   (United States)

^f ST JOSEPH'S HOSPITAL AND MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; K RAS PROTEIN; MAP2K1 PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE; MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; S6 KINASE; SELUMETINIB; TAMOXIFEN; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG; BENZIMIDAZOLE DERIVATIVE; MAP2K1 PROTEIN, HUMAN; TUMOR MARKER;

ADULT; ANCHORAGE INDEPENDENT GROWTH; ARTICLE; CANCER CHEMOTHERAPY; CANCER RECURRENCE; CARCINOGENESIS; CHROMOSOME NUMBER; CHROMOSOME STRUCTURE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVATION; ENZYME PHOSPHORYLATION; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; LOW GRADE SEROUS OVARIAN CANCER; LUNG CANCER; MASS SPECTROMETRY; MELANOMA; MIDDLE AGED; MISSENSE MUTATION; NEUROBLASTOMA; NEXT GENERATION SEQUENCING; OVARY CANCER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SIGNAL TRANSDUCTION; SITE DIRECTED MUTAGENESIS; TREATMENT RESPONSE; 3T3 CELL LINE; ANIMAL; ANTAGONISTS AND INHIBITORS; CANCER GRADING; CASE REPORT; CYSTADENOCARCINOMA; DRUG RESISTANCE; FOLLOW UP; GENETICS; HIGH THROUGHPUT SEQUENCING; MOUSE; MUTATION; NEOPLASM; OVARY TUMOR; PATHOLOGY; PROGNOSIS; TUMOR STEM CELL ASSAY;

ANIMALS; BENZIMIDAZOLES; BIOMARKERS, TUMOR; CYSTADENOCARCINOMA, SEROUS; DRUG RESISTANCE, NEOPLASM; FEMALE; FOLLOW-UP STUDIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MAP KINASE KINASE 1; MICE; MIDDLE AGED; MUTATION; NEOPLASM GRADING; NEOPLASMS, GLANDULAR AND EPITHELIAL; NIH 3T3 CELLS; OVARIAN NEOPLASMS; PROGNOSIS; TUMOR STEM CELL ASSAY;

EID: 84944461699     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2015.62.4726     Document Type: Article

References (33)

1. Bodurka DC, Deavers MT, Tian C, et al: Reclassification of serous ovarian carcinoma by a 2-tier system: A Gynecologic Oncology Group Study. Cancer 118:3087-3094, 2012
2. Vang R, Shih IeM, Salani R, et al: Subdividing ovarian and peritoneal serous carcinoma into moderately differentiated and poorly differentiated does not have biologic validity based on molecular genetic and in vitro drug resistance data. Am J Surg Pathol 32:1667-1674, 2008
3. Schmeler KM, Sun CC, Bodurka DC, et al: Neoadjuvant chemotherapy for low-grade serous carcinoma of the ovary or peritoneum. Gynecol Oncol 108:510-514, 2008
4. Russell SE, McCluggage WG: A multistep model for ovarian tumorigenesis: The value of mutation analysis in the KRAS and BRAF genes. J Pathol 203:617-619, 2004
5. Smith Sehdev AE, Sehdev PS, Kurman RJ: Noninvasive and invasive micropapillary (low-grade) serous carcinoma of the ovary: A clinicopathologic analysis of 135 cases. Am J Surg Pathol 27:725-736, 2003
6. Gershenson DM, Sun CC, Bodurka D, et al: Recurrent low-grade serous ovarian carcinoma is relatively chemoresistant. Gynecol Oncol 114:48-52, 2009
7. Bedard P, Tabernero J, Kurzrock R, et al: A phase Ib,open-label, multicenter, dose-escalation study of the oral pan-PI3K inhibitor BKM120 in combination with the oral MEK1/2 inhibitor GSK1120212 in patients (pts) with selected advanced solid tumors. J Clin Oncol 30:173s, 2012 (suppl 15s; abstr 3003)
8. Farley J, Brady WE, Vathipadiekal V, et al: Selumetinib in women with recurrent low-grade serous carcinoma of the ovary or peritoneum: An open-label, single-Arm, phase 2 study. Lancet Oncol 14:134-140, 2013
9. Ho CL, Kurman RJ, Dehari R, et al: Mutations of BRAF and KRAS precede the development of ovarian serous borderline tumors. Cancer Res 64: 6915-6918, 2004
10. Singer G, Oldt R 3rd, Cohen Y, et al: Mutations in BRAF and KRAS characterize the development of low-grade ovarian serous carcinoma. J Natl Cancer Inst 95:484-486, 2003
11. Kim PH, Cha EK, Sfakianos JP, et al: Genomic predictors of survival in patients with high-grade urothelial carcinoma of the bladder. Eur Urol 67:198-201, 2015
12. Pratilas CA, Taylor BS, Ye Q, et al: (V600E) BRAF is associated with disabled feedback inhibition of RAF-MEK signaling and elevated transcriptional output of the pathway. Proc Natl Acad Sci U S A 106:4519-4524, 2009
13. Rossi D, Trifonov V, Fangazio M, et al: The coding genome of splenic marginal zone lymphoma: Activation of NOTCH2 and other pathways regulating marginal zone development. J Exp Med 209: 1537-1551, 2012
14. Marks JL, Gong Y, Chitale D, et al: Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma. Cancer Res 68: 5524-5528, 2008
15. Murugan AK, Dong J, Xie J, et al: MEK1 mutations, but not ERK2 mutations, occur in melanomas and colon carcinomas, but none in thyroid carcinomas. Cell Cycle 8:2122-2124, 2009
16. Shukla N, Ameur N, Yilmaz I, et al: Oncogene mutation profiling of pediatric solid tumors reveals significant subsets of embryonal rhabdomyosarcoma and neuroblastoma with mutated genes in growth signaling pathways. Clin Cancer Res 18:748-757, 2012
17. Brown NA, Furtado LV, Betz BL, et al: High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis. Blood 124:1655-1658, 2014
18. Boyd J, Luo B, Peri S, et al: Whole exome sequence analysis of serous borderline tumors of the ovary. Gynecol Oncol 130:560-564, 2013
19. Jones S, Wang TL, Kurman RJ, et al: Lowgrade serous carcinomas of the ovary contain very few point mutations. J Pathol 226:413-420, 2012
20. Grisham RN, Iyer G, Garg K, et al: BRAF mutation is associated with early stage disease and improved outcome in patients with low-grade serous ovarian cancer. Cancer 119:548-554, 2013
21. Wong KK, Tsang YT, Deavers MT, et al: BRAF mutation is rare in advanced-stage low-grade ovarian serous carcinomas. Am J Pathol 177:1611-1617, 2010
22. Perera SA, Li D, Shimamura T, et al: HER2YVMA drives rapid development of adenosquamous lung tumors in mice that are sensitive to BIBW2992 and rapamycin combination therapy. Proc Natl Acad Sci U S A 106:474-479, 2009
23. Jones DT, Hutter B, Jäger N, et al: Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. Nat Genet 45:927-932, 2013
24. Pintard L, Willis JH, Willems A, et al: The BTB protein MEL-26 is a substrate-specific adaptor of the CUL-3 ubiquitin-ligase. Nature 425:311-316, 2003
25. Solit DB, Garraway LA, Pratilas CA, et al: BRAF mutation predicts sensitivity to MEK inhibition. Nature 439:358-362, 2006
26. Gao J, Aksoy BA, Dogrusoz U, et al: Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal. Sci Signal 6:pl1, 2013
27. Ahronian LG, Sennott EM, Van Allen EM, et al: Clinical acquired resistance to RAF inhibitor combinations in BRAF-mutant colorectal cancer through MAPK pathway alterations. Cancer Discov 5:358-367, 2015
28. Greger JG, Eastman SD, Zhang V, et al: Combinations of BRAF, MEK, and PI3K/mTOR inhibitors overcome acquired resistance to the BRAF inhibitor GSK2118436 dabrafenib, mediated by NRAS or MEK mutations Mol Cancer Ther 11:909-920, 2012
29. Tsang YT, Deavers MT, Sun CC, et al: KRAS (but not BRAF) mutations in ovarian serous borderline tumour are associated with recurrent low-grade serous carcinoma. J Pathol 231:449-456, 2013
30. Cancer Genome Atlas Research Network: Integrated genomic analyses of ovarian carcinoma. Nature 474:609-615, 2011
31. Hutchinson KE, Lipson D, Stephens PJ, et al: BRAF fusions define a distinct molecular subset of melanomas with potential sensitivity to MEK inhibition. Clin Cancer Res 19:6696-6702, 2013
32. Flaherty KT, Robert C, Hersey P, et al: Improved survival with MEK inhibition in BRAFmutated melanoma. N Engl J Med 367:107-114, 2012
33. Xing F, Persaud Y, Pratilas CA, et al: Concurrent loss of the PTEN and RB1 tumor suppressors attenuates RAF dependence in melanomas harboring (V600E)BRAF. Oncogene 31:446-457, 2012