K.V. Menshikov1,2, Sh.I. Musin1, A.V. Sultanbaev1, I.A. Menshikova2, A.F. Nasretdinov1, N.I. Sultanbaeva1
1Republican Clinical Oncological Dispensary, Ufa
2Bashkir State Medical University, Ufa
Menshikov Konstantin V. ― Ph.D. (medicine), Associate Professor of the Department of Oncology with courses on oncology and pathological anatomy of the Bashkir State Medical University; oncologist of the Department of Chemotherapy of the Republican Clinical Oncological Dispensary
73/1 Oktyabrya Ave., Ufa, Russian Federation, 450054, tel. +7-917-348-82-51, e-mail: email@example.com, ORCID ID: 0000-0003-3734-2779
The Aim ― description of a clinical case of treatment of generalized ovarian cancer with a rare germinal mutation in the BRCA1 gene: NM_007294: exon18: pp. С5161Т: р.Q1721X.
Material and methods. The article describes a clinical case of a patient suffering from generalized ovarian cancer associated with a rare BRCA1 mutation. The patient receives treatment in the conditions of Republican Clinical Oncological Dispensary (Ufa). No mutations in the BRCA1 and BRCA2 genes were detected by PCR. Taking into account the age, platinum sensitivity, sequencing of a new generation of NGS (tumor material) revealed the presence of a rare mutation in the BRCA1 gene. Evaluation of the effectiveness of therapy is carried out by PET CT and the determination of the level of tumor markers CA 125, HE 4.
Results. For 4 years, disease control in a patient with advanced ovarian cancer. The patient underwent two blocks of chemotherapy (neoadjuvant and adjuvant), surgical treatment for cytoreduction ― total hysterectomy, omentectomy, pelvic partial peritoneumectomy. For a relapse of the disease after 16 months, a block of platinum-containing chemotherapy was performed with a recorded complete response. Taking into account the presence of a germline mutation in the BRCA1 gene, the therapy was personalized, which made it possible to achieve a complete tumor response. Supportive therapy with a PARP inhibitor is currently under way. The circle of the patient's closest relatives was determined; biosamples were taken for molecular genetic testing for the presence of a mutation in the BRCA1 gene. If a mutation is detected in relatives, it is planned to conduct regular preventive medical examinations.
Conclusion. Personalization of treatment for hereditary forms of cancer can improve treatment results in this category of patients. A special role is played by screening measures among relatives, aimed at detecting malignant neoplasms at the earliest stages.
Key words: ovarian cancer, BRCA1 mutation, BRCA2, chemotherapy, PARP-inhibitors.