RENAL CELL CARCINOMA WITH SUCCINATE DEHYDROGENASE B DEFICIENCY IN A 15-YEAR-OLD BOY WITH SYNDROME OF HEREDITARY PHEOCHROMOCYTOMA AND PARAGANGLIOMA TYPE 4

Abstract

Succinate dehydrogenase-deficient renal cell carcinoma (SDH-deficient RCC) is histological variant of RCC recently recognized and included in the classification of renal tumors. SDH-deficient RCC constitutes only 0,02–0,5% of all RCC. The main role in the development of this malignant neoplasm (MN) belongs to mutations in the genes of succinate dehydrogenase (SDHx). The article presents a clinical case report of SDH-deficient RCC in the 15-year-old child. RCC developed as a consequence of the syndrome of hereditary pheochromocytoma and paraganglioma type 4. A literature review describes the histological and molecular genetic characteristics of SDH-deficient RCC, the clinical picture, approaches to therapy and monitoring of patients, as well as indications for genetic testing of patients and their relatives to identify cancer predisposition syndromes.