Patient #5726
This woman has been followed for SDS since she was 10 years old. At 47, she was diagnosed with peritoneal carcinomatosis. Her initial signs were asthenia, diffuse abdominal pain, abdominal distension, anemia, and hypoalbuminemia with coagulation disorders (prolonged prothrombin time (PT) and partial thromboplastin time (PTT)). Histology of biopsies showed peritoneal adenocarcinoma in favor of a serous extension of an ovarian or primary peritoneal adenocarcinoma (BRCA1 and 2 negative). The extended work-up found multiple peritoneal nodules without hepatic, splenic, retroperitoneal, bone and cervical–thoracic localizations. Because of a potential paraneoplastic coagulopathy (PT < 40% and low coagulation factor concentrations, absence of circulating anti-VII autoantibodies), conventional chemotherapy (carboplatin–taxol) was prescribed, even though the tumor was resectable. She responded well to three chemotherapy cycles, followed by total hysterectomy with bilateral adnexectomy, omentectomy and peritonectomy, right colectomy, left colectomy and partial hepatectomy. Tumor histology revealed papillary and serous carcinoma of the peritoneum. The postoperative course was marked by severe infection. Ten days after surgery, she developed emphysematous cystitis with multifocal right pyelonephritis. No germs were identified. Despite respiratory assistance, empirical antibiotic therapy and G-CSF use, her situation deteriorated rapidly; she died 6 months after cancer diagnosis. NGS of cancer cells showed aTP53 pathogenic variant (c.329G>C, p.Arg110Pro) with 92%VAF, which suggests either variant homozygosity or deletion of the chromosome 17 which could not be studied in our sample.