A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the FANCM Mutation. (16th May 2019)

• Record Type: Journal Article
• Authors: Nikolaidi, Adamantia; Konstantopoulou, Irene; Pistalmantzian, Nikolaos; Fostira, Florentia; Yannoukakos, Drakoulis; Athanasiadis, Ilias
• Other Names: Mayordomo Jose I. Academic Editor.
• Is Part Of: Case reports in oncological medicine. Volume 2019(2019)
• Publication Date: 2019-05-16
• Subjects: Oncology -- Periodicals; Tumors -- Periodicals; Oncology -- Case studies -- Periodicals; Neoplasms; Oncology; Tumors; Electronic journals; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 616.994
• DOI: 10.1155/2019/9357924
• Languages: English
• ISSNs: 2090-6706

Abstract

Abstract : We report a case of a 58-year-old female with ovarian cancer. The patient presented with ascites, and the biopsies revealed a low-grade adenocarcinoma, either a serous papillary ovarian cancer with peritoneal implants or a primary peritoneal carcinoma. She received neoadjuvant chemotherapy and after 5 cycles achieved partial response, and then, she underwent a total hysterectomy/bilateral salpingo-oophorectomy. The patient underwent germline gene-panel testing for the detection of mutations in cancer predisposing genes. A truncating mutation in the Fanconi anemia complementation group M (FANCM) gene was detected in heterozygosity, namely, p.Arg658Ter (c.1972C>T, rs368728266). The patient's family history is unremarkable, with no reported cases of breast or ovarian cancer, a fact that can be attributed to the significant lower penetrance of FANCM mutations.