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BRCA1-associated ovarian carcinoma

Monday 19 May 2008

BRCA1 Ovarian Cancer Phenotype

The combination of modified Nottingham grade 3 serous or undifferentiated histology, prominent intraepithelial lymphocytes, marked nuclear atypia with giant/bizarre nuclei, and high mitotic index should help to identify women for BRCA1 mutational analysis in the appropriate clinical setting. (22790858)

Ovarian tumors lacking this specific phenotype are unlikely to be associated with BRCA1 and should not undergo mutational analysis in the absence of other indications.

Risk-reducing salpingo-oophorectomy (RRSO)

Risk-reducing salpingo-oophorectomy (RRSO) is an effective prophylactic procedure for women with mutations in BRCA1 or BRCA2 genes, both of which confer an increased lifetime risk for ovarian, tubal, peritoneal, and breast cancer. (19440148)

In addition to lowering this risk, RRSO also offers the opportunity to detect occult early-stage fallopian tube or ovarian carcinoma.

The differential diagnosis of occult tubal/ovarian cancer includes a spectrum of benign tubal and ovarian alterations and also occult metastatic breast cancer, although only rare cases of the latter have been reported in RRSO.

Neoadjuvant breast cancer chemotherapy may contribute to diagnostic difficulty due to treatment-induced cytologic alterations.

Evaluation of RRSO specimens requires awareness of a spectrum of ovarian lesions which may mimic occult primary or metastatic carcinoma; awareness of the masquerading effects of neoadjuvant chemotherapy; and awareness of the potential morphologic differences between occult metastatic breast cancer in RRSO and non-RRSO specimens. (19440148)

See also

- ovarian carcinomas

  • BRCA1 associated tumors


- Prediction of BRCA1 Germline Mutation Status in Women With Ovarian Cancer Using Morphology-based Criteria: Identification of a BRCA1 Ovarian Cancer Phenotype. Fujiwara M, McGuire VA, Felberg A, Sieh W, Whittemore AS, Longacre TA. Am J Surg Pathol. 2012 Aug;36(8):1170-7. PMID: 22790858

- Ovarian Pathology in Risk-reducing Salpingo-oophorectomies From Women With BRCA Mutations, Emphasizing the Differential Diagnosis of Occult Primary and Metastatic Carcinoma. Rabban JT, Barnes M, Chen LM, Powell CB, Crawford B, Zaloudek CJ. Am J Surg Pathol. 2009 May 13. PMID: 19440148

- Chisholm KM, Goff BA, Garcia R, King MC, Swisher EM. Genomic structure of chromosome 17 deletions in BRCA1-associated ovarian cancers. Cancer Genet Cytogenet. 2008 May;183(1):41-8. PMID: 18474296