Frequency of mutations and polymorphisms in borderline ovarian tumors of known cancer genes

Modern Pathology

Volumn 26, Issue 4, 2013, Pages 544-552

  Stemke Hale, Katherine ^a   Shipman, Kristy ^b   Kitsou Mylona, Isidora ^b   De Castro, David G ^c   Hird, Vicky ^d   Brown, Robert ^b   Flanagan, James ^b   Gabra, Hani ^b   Mills, Gordon B ^a   Agarwal, Roshan ^b   El Bahrawy, Mona ^b,e  

^a UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

^c INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^d QUEEN CHARLOTTE S AND CHELSEA HOSPITAL   (United Kingdom)

^e ALEXANDRIA UNIVERSITY   (Egypt)

Author keywords

borderline; ovarian; sequenom; tumors

Indexed keywords

ABCB1 GENE; ADULT; AGED; ALLELIC IMBALANCE; ANALYZER; ANGIOGENESIS; APOPTOSIS; ARTICLE; BORDERLINE OVARIAN TUMOR; CELL AGING; CELL CYCLE REGULATION; CONTROLLED STUDY; FEMALE; FGFR2 GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MOLECULAR PATHOLOGY; MUTATION RATE; OVARY TUMOR; PHLPP2 GENE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; TUMOR GENE; VEGF GENE;

ADENOCARCINOMA, MUCINOUS; CARCINOMA, ENDOMETRIOID; CYSTADENOCARCINOMA, SEROUS; DNA MUTATIONAL ANALYSIS; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IMMUNOHISTOCHEMISTRY; MIDDLE AGED; MUTATION; NEOPLASM STAGING; OVARIAN NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84876464392     PISSN: 08933952     EISSN: 15300285     Source Type: Journal    
DOI: 10.1038/modpathol.2012.194     Document Type: Article

References (46)

1. Morice P, Uzan C, Fauvet R, et al. Borderline ovarian tumour: pathological diagnostic dilemma and risk factors for invasive or lethal recurrence. Lancet Oncol 2012;13:e103-e115.
2. Sherman ME, Berman J, Birrer MJ, et al. Current challenges and opportunities for research on borderline ovarian tumors. Hum Pathol 2004;35:961-970. (Pubitemid 39037179)
3. Bell DA, Scully RE. Ovarian serous borderline tumors with stromal microinvasion: a report of 21 cases. Hum Pathol 1990;21:397-403. (Pubitemid 20141024)
4. Kennedy AW, Hart WR. Ovarian papillary serous tumors of low malignant potential (serous borderline tumors). A long-term follow-up study, including patients with microinvasion, lymph node metastasis, and transformation to invasive serous carcinoma. Cancer 1996;78:278-286. (Pubitemid 26234571)
5. McKenney JK, Balzer BL, Longacre TA. Patterns of stromal invasion in ovarian serous tumors of low malignant potential (borderline tumors): a reevaluation of the concept of stromal microinvasion. Am J Surg Pathol 2006;30:1209-1221. (Pubitemid 44454698)
6. Seidman JD, Kurman RJ. Ovarian serous borderline tumors: a critical review of the literature with emphasis on prognostic indicators. Hum Pathol 2000;31:539-557. (Pubitemid 30323979)
7. Longacre TA, McKenney JK, Tazelaar HD, et al. Ovarian serous tumors of low malignant potential (borderline tumors): outcome-based study of 276 patients with long-term (4 or f5-year) follow-up. Am J Surg Pathol 2005;29:707-723. (Pubitemid 40734421)
8. Romagnolo C, Gadducci A, Sartori E, et al. Management of borderline ovarian tumors: results of an Italian multicenter study. Gynecol Oncol 2006;101:255-260.
9. Wong HF, Low JJ, Chua Y, et al. Ovarian tumors of borderline malignancy: a review of 247 patients from 1991 to 2004. Int J Gynecol Cancer 2007;17:342-349. (Pubitemid 46426778)
10. Faluyi O, Mackean M, Gourley C, et al. Interventions for the treatment of borderline ovarian tumours. Cochrane Database Syst Rev 2010;9:CD007696.
11. Micci F, Haugom L, Ahlquist T, et al. Genomic aberrations in borderline ovarian tumors. J Transl Med 2010;8:21.
12. Shih Ie M, Kurman RJ. Molecular pathogenesis of ovarian borderline tumors: new insights and old challenges. Clin Cancer Res 2005;11:7273-7279. (Pubitemid 41507684)
13. Caduff RF, Svoboda-Newman SM, Ferguson AW, et al. Comparison of mutations of Ki-RAS and p53 immu-noreactivity in borderline and malignant epithelial ovarian tumors. Am J Surg Pathol 1999;23:323-328. (Pubitemid 29117569)
14. Ho CL, Kurman RJ, Dehari R, et al. Mutations of BRAF and KRAS precede the development of ovarian serous borderline tumors. Cancer Res 2004;64:6915-6918. (Pubitemid 39330999)
15. Kupryjanczyk J, Bell DA, Dimeo D, et al. p53 gene analysis of ovarian borderline tumors and stage I carcinomas. Hum Pathol 1995;26:387-392.
16. Mayr D, Hirschmann A, Lohrs U, et al. KRAS and BRAF mutations in ovarian tumors: a comprehensive study of invasive carcinomas, borderline tumors and extraovar-ian implants. Gynecol Oncol 2006;103:883-887. (Pubitemid 44821309)
17. Jones S, Wang TL, Kurman RJ, et al. Low-grade serous carcinomas of the ovary contain very few point mutations. J Pathol 2012;226:413-420.
18. Nakayama K, Nakayama N, Kurman RJ, et al. Sequence mutations and amplification of PIK3CA and AKT2 genes in purified ovarian serous neoplasms. Cancer Biol Ther 2006;5:779-785. (Pubitemid 44775134)
19. Lakhani SR, Manek S, Penault-Llorca F, et al. Pathology of ovarian cancers in BRCA1 and BRCA2 carriers. Clin Cancer Res 2004;10:2473-2481. (Pubitemid 38445709)
20. Steffensen KD, Waldstrom M, Olsen DA, et al. Mutant epidermal growth factor receptor in benign, borderline, and malignant ovarian tumors. Clin Cancer Res 2008; 14:3278-3282.
21. Oliva E, Sarrio D, Brachtel EF, et al. High frequency of beta-catenin mutations in borderline endometrioid tumours of the ovary. J Pathol 2006;208:708-713.
22. Mayr D, Kanitz V, Amann G, et al. HER-2/neu gene amplification in ovarian tumours: a comprehensive immunohistochemical and FISH analysis on tissue microarrays. Histopathology 2006;48:149-156.
23. Bellacosa A, de Feo D, Godwin AK, et al. Molecular alterations of the AKT2 oncogene in ovarian and breast carcinomas. Int J Cancer 1995;64:280-285.
24. Stemke-Hale K, Gonzalez-Angulo AM, Lluch A, et al. An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. Cancer Res 2008;68:6084-6091.
25. Fumagalli D, Gavin PG, Taniyama Y, et al. A rapid, sensitive, reproducible and cost-effective method for mutation profiling of colon cancer and metastatic lymph nodes. BMC Cancer 2010;10:101.
26. Cuatrecasas M, Erill N, Musulen E, et al. K-ras mutations in nonmucinous ovarian epithelial tumors: a molecular analysis and clinicopathologic study of 144 patients. Cancer 1998;82:1088-1095. (Pubitemid 28136522)
27. Diebold J, Seemuller F, Lohrs U. K-RAS mutations in ovarian and extraovarian lesions of serous tumors of borderline malignancy. Lab Invest 2003;83:251-258. (Pubitemid 36255369)
28. Giordano G, Azzoni C, D'Adda T, et al. Human papilloma virus (HPV) status, p16INK4a, and p53 overexpression in epithelial malignant and borderline ovarian neoplasms. Pathol Res Pract 2008;204:163-174.
29. Mok SC, Bell DA, Knapp RC, et al. Mutation of K-ras protooncogene in human ovarian epithelial tumors of borderline malignancy. Cancer Res 1993;53:1489-1492. (Pubitemid 23113216)
30. Sieben NL, Macropoulos P, Roemen GM, et al. In ovarian neoplasms, BRAF, but not KRAS, mutations are restricted to low-grade serous tumours. J Pathol 2004;202:336-340. (Pubitemid 38325243)
31. 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 2003;95:484-486. (Pubitemid 36432423)
32. McCubrey JA, Steelman LS, Abrams SL, et al. Roles of the RAF/MEK/ERK and PI3K/PTEN/AKT pathways in malignant transformation and drug resistance. Adv Enzyme Regul 2006;46:249-279. (Pubitemid 44301348)
33. Hayes MP, Wang H, Espinal-Witter R, et al. PIK3CA and PTEN mutations in uterine endometrioid carcinoma and complex atypical hyperplasia. Clin Cancer Res 2006;12:5932-5935. (Pubitemid 44703751)
34. Campbell IG, Russell SE, Choong DY, et al. Mutation of the PIK3CA gene in ovarian and breast cancer. Cancer Res 2004;64:7678-7681. (Pubitemid 39446895)
35. Catasus L, Gallardo A, Cuatrecasas M, et al. PIK3CA mutations in the kinase domain (exon 20) of uterine en-dometrial adenocarcinomas are associated with adverse prognostic parameters. Modern Pathol 2008;21:131-139. (Pubitemid 351172164)
36. Catasus L, Gallardo A, Cuatrecasas M, et al. Concomitant PI3K-AKT and p53 alterations in endometrial carcinomas are associated with poor prognosis. Modern Pathol 2009;22:522-529.
37. Mori N, Kyo S, Sakaguchi J, et al. Concomitant activation of AKT with extracellular-regulated kinase 1/2 occurs independently of PTEN or PIK3CA mutations in endometrial cancer and may be associated with favorable prognosis. Cancer Sci 2007;98:1881-1888. (Pubitemid 350002193)
38. Konstantinova D, Kaneva R, Dimitrov R, et al. Rare mutations in the PIK3CA gene contribute to aggressive endometrial cancer. DNA Cell Biol 2010;29:65-70.
39. Jurinke C, Denissenko MF, Oeth P, et al. A single nucleotide polymorphism based approach for the identification and characterization of gene expression modulation using MassARRAY. Mut Res 2005;573:83-95.
40. Tang K, Oeth P, Kammerer S, et al. Mining disease susceptibility genes through SNP analyses and expression profiling using MALDI-TOF mass spectrometry. J Proteome Res 2004;3:218-227. (Pubitemid 38500988)
41. Perren TJ, Swart AM, Pfisterer J, et al. A phase 3 trial of bevacizumab in ovarian cancer. N Engl J Med 2011;365:2484-2496.
42. Schultheis AM, Lurje G, Rhodes KE, et al. Polymorphisms and clinical outcome in recurrent ovarian cancer treated with cyclophosphamide and bevacizumab. Clin Cancer Res 2008;14:7554-7563.
43. Brognard J, Newton AC. PHLiPPing the switch on Akt and protein kinase C signaling. Trends Endocrinol Metab 2008;19:223-230. (Pubitemid 351993013)
44. Gao T, Brognard J, Newton AC. The phosphatase PHLPP controls the cellular levels of protein kinase C. J Biol Chem 2008;283:6300-6311.
45. Brognard J, Niederst M, Reyes G, et al. Common polymorphism in the phosphatase PHLPP2 results in reduced regulation of Akt and protein kinase C. J Biol Chem 2009;284:15215-15223.
46. Matulonis UA, Hirsch M, Palescandolo E, et al. High throughput interrogation of somatic mutations in high grade serous cancer of the ovary. PLoS One 2011;6: e24433.