RENAL CELL CARCINOMA WITH SUCCINATE DEHYDROGENASE B DEFICIENCY IN A 15-YEAR-OLD BOY WITH SYNDROME OF HEREDITARY PHEOCHROMOCYTOMA AND PARAGANGLIOMA TYPE 4
| Autor: | D.Yu. Kachanov, M.V. Teleshova, N.N. Merkulov, Anna Mitrofanova, T.S. Stolyarova, M.A. Kurnikova, Immunology named after Dmitry Rogachev, Moscow, Russia, D.G. Akhaladze, T.V. Shamanskaya, N.V. Zhukov |
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| Rok vydání: | 2021 |
| Předmět: |
Pathology
medicine.medical_specialty biology business.industry Succinate dehydrogenase macromolecular substances urologic and male genital diseases medicine.disease female genital diseases and pregnancy complications Pheochromocytoma Renal cell carcinoma Paraganglioma Pediatrics Perinatology and Child Health medicine biology.protein business neoplasms |
| Zdroj: | Pediatria. Journal named after G.N. Speransky. 100:266-272 |
| ISSN: | 1990-2182 0031-403X |
| DOI: | 10.24110/0031-403x-2021-100-3-266-272 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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