Медицинский совет (Jun 2021)
Lynch syndrome as a manifestation of hereditary ovarian cancer: a case report of treatment of a patient with platinum-sensitive recurrent ovarian cancer
Abstract
When we talk about hereditary ovarian cancer, we usually mean BRCA – associated cancer. Detection of hereditary ovarian cancer is important for the prevention of cancer in blood relatives of mutation carriers, and also makes it possible to use PARP inhibitors as maintenance therapy in BRCA – associated ovarian cancer.Due to the widespread introduction of modern molecular genetic technologies and the expansion of the diagnostic panel, mutations in genes other than BRCA 1/2 have begun to be detected in individuals with suspected hereditary ovarian cancer. Lynch’s syndrome is one of the most common and studied hereditary cancer syndromes. Interest in this syndrome in recent years is due to the emergence of the possibility of using checkpoint inhibitors – pembrolizumab and nivolumab for the treatment of colorectal cancer, stomach and endometrial cancer. To date, the definition of mutations in the genes of the MMR – system in ovarian cancer has not yet been applied in practice. Proband is a 69-year-old female with stage IIIC ovarian cancer at the time of diagnosis. The family history is burdened by 2 cases: lung cancer in the father and pancreatic cancer in the mother after the age of 60 years. Despite the advanced oncological process at the time of diagnosis, the start of combined treatment with 5 courses of neoadjuvant chemotherapy, incomplete cytoreduction, the patient’s overall survival during the follow-up period was 92 months. The clinical course of the disease was characterized as BRCA-associated ovarian cancer: long overall and relapse-free survival, long free-ofcharge interval with several relapses of more than 6 months; burdened family history; response to therapy with platinum and gemcitabine. However, when testing a patient with platinum-sensitive relapse by PCR, no mutations in the BRCA genes 1 and 2 were detected. To search for causal mutations, genetic testing was carried out using NGS technologies at the second stage. A germline mutation in the EPCAM gene involved in Lynch syndrome has been identified.
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