A Diagnostic Dilemma Following Risk-reducing Surgery for BRCA1 Mutation - a Case Report of Primary Papillary Serous Carcinoma Presenting As Sigmoid Cancer

Overview

Journal World J Surg Oncol

Publisher Biomed Central

Specialties General Surgery
Oncology

Date 2007 Sep 14

PMID 17850658

Citations 2

Authors

Manish Chand

Patrick J Moore

Andrew D Clarke

Guy F Nash

Tamas Hickisk

Affiliations

Soon will be listed here.

Abstract

Background: Women that carry germ-line mutations for BRCA1 or BRCA2 genes are at an increased risk of developing breast, ovarian and peritoneal cancer. Primary peritoneal carcinoma is a rare tumour histologically identical to papillary serous ovarian carcinoma. Risk-reducing surgery in the form of mastectomy and oophorectomy in premenopausal women has been recommended to prevent breast and ovarian cancer occurrence and decrease the risk of developing primary peritoneal cancer.

Case Presentation: We present a case report of a woman with a strong family history of breast cancer who underwent risk-reducing surgery in the form of bilateral salpingo-oophorectomy following a mastectomy for a right-sided breast tumour. Following the finding of a BRCA1 mutation, a prophylactic left-sided mastectomy was performed. After remaining well for twenty-seven years, she presented with rectal bleeding and altered bowel habit, and was found to have a secondary cancer of the sigmoid colon. She was finally diagnosed with primary papillary serous carcinoma of the peritoneum (PSCP).

Conclusion: PSCP can present many years after risk-reducing surgery and be difficult to detect. Surveillance remains the best course of management for patients with known BRCA mutations.

Citing Articles

Tumors that mimic asbestos-related mesothelioma: time to consider a genetics-based tumor registry?.

Kerger B, James R, Galbraith D Front Genet. 2014; 5:151.

PMID: 24910640 PMC: 4038924. DOI: 10.3389/fgene.2014.00151.

Coexistence of tuberculous peritonitis and primary papillary serous carcinoma of the peritoneum: a case report and review of the literature.

Hou X, Cui H, Jin X World J Gastroenterol. 2009; 15(6):761-3.

PMID: 19222106 PMC: 2653450. DOI: 10.3748/wjg.15.761.

References

. Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. Br J Cancer. 2000; 83(10):1301-8. PMC: 2408797. DOI: 10.1054/bjoc.2000.1407. View

Finch A, Beiner M, Lubinski J, Lynch H, Moller P, Rosen B . Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation. JAMA. 2006; 296(2):185-92. DOI: 10.1001/jama.296.2.185. View

Piura B, Rabinovich A, Yanai-Inbar I . Three primary malignancies related to BRCA mutation successively occurring in a BRCA1 185delAG mutation carrier. Eur J Obstet Gynecol Reprod Biol. 2001; 97(2):241-4. DOI: 10.1016/s0301-2115(00)00521-2. View

Liede A, Karlan B, Baldwin R, Platt L, Kuperstein G, Narod S . Cancer incidence in a population of Jewish women at risk of ovarian cancer. J Clin Oncol. 2002; 20(6):1570-7. DOI: 10.1200/JCO.2002.20.6.1570. View

Kauff N, Satagopan J, Robson M, Scheuer L, Hensley M, Hudis C . Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med. 2002; 346(21):1609-15. DOI: 10.1056/NEJMoa020119. View

Rebbeck T, Lynch H, Neuhausen S, Narod S, Veer L, Garber J . Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med. 2002; 346(21):1616-22. DOI: 10.1056/NEJMoa012158. View

Thompson D, Easton D . Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst. 2002; 94(18):1358-65. DOI: 10.1093/jnci/94.18.1358. View

Levine D, Argenta P, Yee C, Marshall D, Olvera N, Bogomolniy F . Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations. J Clin Oncol. 2003; 21(22):4222-7. DOI: 10.1200/JCO.2003.04.131. View

Lauchlan S . The secondary Müllerian system. Obstet Gynecol Surv. 1972; 27(3):133-46. DOI: 10.1097/00006254-197203000-00001. View

10.

KANNERSTEIN M, Churg J, McCAUGHEY W, Hill D . Papillary tumors of the peritoneum in women: mesothelioma or papillary carcinoma. Am J Obstet Gynecol. 1977; 127(3):306-14. DOI: 10.1016/0002-9378(77)90475-6. View

11.

Tobacman J, Greene M, Tucker M, Costa J, Kase R, Fraumeni Jr J . Intra-abdominal carcinomatosis after prophylactic oophorectomy in ovarian-cancer-prone families. Lancet. 1982; 2(8302):795-7. DOI: 10.1016/s0140-6736(82)92681-2. View

12.

Altaras M, Aviram R, Cohen I, Cordoba M, Weiss E, Beyth Y . Primary peritoneal papillary serous adenocarcinoma: clinical and management aspects. Gynecol Oncol. 1991; 40(3):230-6. DOI: 10.1016/0090-8258(90)90283-q. View

13.

Piver M, Jishi M, Tsukada Y, Nava G . Primary peritoneal carcinoma after prophylactic oophorectomy in women with a family history of ovarian cancer. A report of the Gilda Radner Familial Ovarian Cancer Registry. Cancer. 1993; 71(9):2751-5. DOI: 10.1002/1097-0142(19930501)71:9<2751::aid-cncr2820710911>3.0.co;2-j. View

14.

Struewing J, Hartge P, Wacholder S, Baker S, Berlin M, McAdams M . The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med. 1997; 336(20):1401-8. DOI: 10.1056/NEJM199705153362001. View

15.

Ford D, Easton D, Stratton M, Narod S, Goldgar D, Devilee P . Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998; 62(3):676-89. PMC: 1376944. DOI: 10.1086/301749. View

16.

Bree R, Francis I, Korobkin M . CT appearance of primary papillary serous carcinoma of the peritoneum. AJR Am J Roentgenol. 1998; 171(3):687-9. DOI: 10.2214/ajr.171.3.9725296. View

17.

. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999; 91(15):1310-6. DOI: 10.1093/jnci/91.15.1310. View

18.

Casey M, Bewtra C . Peritoneal carcinoma in women with genetic susceptibility: implications for Jewish populations. Fam Cancer. 2004; 3(3-4):265-81. DOI: 10.1007/s10689-004-9554-y. View

19.

Whittemore A, Gong G, John E, McGuire V, Li F, Ostrow K . Prevalence of BRCA1 mutation carriers among U.S. non-Hispanic Whites. Cancer Epidemiol Biomarkers Prev. 2004; 13(12):2078-83. View

20.

Satagopan J, Offit K, Foulkes W, Robson M, Wacholder S, Eng C . The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. Cancer Epidemiol Biomarkers Prev. 2001; 10(5):467-73. View