Clinical case of gastric cancer in patient with hereditary BRCA-associated ovarian cancer

Abstract

The detection of tumor-like formations in the area of the uterine appendages during dispensary observation in patients who have undergone treatment for malignant neoplasms of the gastrointestinal tract often suggests metastatic lesions of the ovaries (Krukenberg metastasis). It is very important to collect anamnestic data, namely the fact of hereditary burden. It is recognized that one of the main indications for molecular genetic testing for the detection of mutations in the BRCA1, BRCA2 genes is hereditary burden, that is, the presence of a family history of cancer. Oncological burden of personal history, implying the development of polyneoplasias, is less often taken into account by oncologists, although it is one of the most important characteristics of hereditary ovarian cancer. Most often, with BRCA-associated ovarian cancer, breast cancer, pancreatic cancer occurs in the patient herself (polyneoplasia) or in close female and male relatives. The risk of developing stomach cancer is extremely low in patients with mutations in the BRCA1 genes. Stomach cancer is characterized by mutations in other genes. The article presents a rare case of multiple primary metachronous gastric cancer and BRCA1-associated ovarian cancer. In a patient who underwent radical treatment for stomach cancer, after 3 years, a relapse in the region of the esophageal-gastric anastomosis was revealed. Regarding the recurrence, extirpation of the gastric transplant with esophagogastroanastomosis with one-stage reconstruction – colon plastic surgery was performed in a planned manner. 10 years after the second operation, the patient was diagnosed with ovarian cancer. Taking into account the obtained postoperative historesponse for the ovary (serous adenocarcinoma), aggravated family and personal history, the patient underwent a molecular genetic study in order to identify germline mutations in the BRCA1 and BRCA2 genes by the polymerase chain reaction method. For the detection of mutations, a standard diagnostic panel was used, which makes it possible to analyze the mutations most common in the Russian Federation. According to the results of the study, the patient was found to have a 5382insC mutation in the BRCA1 gene. The patient is a candidate for PARP inhibitors, which are widely used as maintenance therapy not only for hereditary ovarian cancer, but also have found application in the treatment of patients with identified somatic mutations in the BRCA1 and BRCA2 genes, which will increase life expectancy and improve treatment results.