A Patient Affected with Serous OvarianPeritoneal Carcinoma Carrying the FANCM Mutation

Abstract EN

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.