Author/Authors :
Athanasiadis, Ilias Oncology Department MITERA Hospital - Athens, Greece , Nikolaidi, Adamantia Oncology Department MITERA Hospital - Athens, Greece , Pistalmantzian, Nikolaos Oncology Department MITERA Hospital - Athens, Greece , Konstantopoulou, Irene Molecular Diagnostics Lab - NCSR “Demokritos” - Athens, Greece , Fostira, Florentia Molecular Diagnostics Lab - NCSR “Demokritos” - Athens, Greece , Yannoukakos, Drakoulis Molecular Diagnostics Lab - NCSR “Demokritos” - Athens, Greece
Abstract :
We report a case of a 58-year-old female with ovarian cancer. The patient presented with ascites, and the biopsies revealed alow-grade adenocarcinoma, either a serous papillary ovarian cancer with peritoneal implants or a primary peritonealcarcinoma. She received neoadjuvant chemotherapy and after 5 cycles achieved partial response, and then, she underwent atotal hysterectomy/bilateral salpingo-oophorectomy. The patient underwent germline gene-panel testing for the detection ofmutations 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 isunremarkable, with no reported cases of breast or ovarian cancer, a fact that can be attributed to the significant lowerpenetrance of FANCM mutations
Keywords :
Patient Affected , Serous Ovarian/Peritoneal Carcinoma Carrying , FANCM Mutation , FANCM
