Ovarian carcinoma in patients with BRCA mutation - a correlation between the growing pattern of peritoneal implants evaluated by CT/MRI and the genotype BRCA1 and BRCA2

Abstract

Abstract Background Ovarian cancer is the leading cause of death from gynecologic cancer. The risk of developing ovarian cancer is significantly increased in patients that carry a genetic mutation of tumor suppressor gene BRCA1 or BRCA2. The majority of BRCA-associated ovarian/fallopian tube cancers are high-grade serous carcinomas (HGSC). The recognition of patterns of disease is crucial to identify distinctive imaging features that could be useful for predicting prognosis and therapeutic response. Results An institutional review board-approved retrospective study was performed and included 34patients (23 BRCA-mutated and 11 BRCA wild-type) with HGSC FIGO III/IV who underwent pre-operative or pre-chemotherapy contrast-enhanced CT/MRI of the abdomen and pelvis between January 2003 and December 2017. Three radiologists independently reviewed the imaging studies and looked for qualitative features of the primary tumor and peritoneal metastases (nodular versus infiltrative pattern). Two pathologists also assessed the histopathologic characteristics of the surgical specimens, with emphasis on the growth pattern of metastatic deposits (expansive/nodular and infiltrative) and inflammatory infiltrate (intra- and/or peritumoral). No significant associations were found between the different groups of patients (BRCA1-mutant HGSC, BRCA2-mutant HGSC. and BRCA wild-type) and CT/MRI features of ovarian tumors, morphology of peritoneal metastasis, and pathologic characteristics. Conclusion Identification of specific imaging and pathologic features is important to pursue an optimal personalized cancer treatment strategy and to develop precision medicine in the future.

Keywords

• Cancer
• Ovary
• High-grade serous carcinoma
• Peritoneal metastases
• BRCA1
• BRCA2