V.A. Beloborodov1, S.B. Pinskiy1, V.V. Dvornichenko2, Yu.K. Batoroev2
1Irkutsk State Medical University, Irkutsk
2Irkutsk State Medical Academy of Postgraduate Education ― Branch Campus of the FSBEI FPE RMACPE MOH Russia, Irkutsk
Beloborodov V.A. ― D. Sc. (Medicine), Professor, Head of General Surgery and Anesthesiology Department of Irkutsk State Medical University
118 Baikalskaya Str., Irkutsk, Russian Federation, 664046, tel. (3952) 70-37-29
Abstract. Adrenal tumors can occur sporadically or be a manifestation of hereditary diseases. Currently, the genetic nature of a number of hereditary diseases (syndromes) associated with tumors of the cortex and the adrenal medulla is established. Tumors of the adrenal cortex may be associated with syndromes of multiple endocrine neoplasia type 1 (MEN-1) and Karni-complex, tumors of the adrenal medulla with multiple endocrine neoplasia type 2 (MEN-2), von Hippel-Lindau, familial paraganglioma/pheochromocytoma, neurofibromatosis type 1 and Pakak-Juan. Differences in clinical manifestations are associated with the features of their pathogenesis. New genetic discoveries (gene mutations SDH, TMEM 127, MAX) have changed the understanding of the problem of pheochromocytoma (PC) and paraganglioma (PG). In more than 30% of patients with PC and PG, the cause of the disease is a genetic mutation, which in 50% of cases is inherited. Genetic diagnosis with the definition of a specific mutation in a gene is the most important component of managing patients with PC. The removal of FH in the first place allows to avoid severe hemodynamic complications in the presence of other endocrinopathies. A positive result of genetic testing is the key to effective treatment and prognosis. In a patient with a clear sporadic PC or PG, it is necessary to determine the possibility of a hidden hereditary predisposition. The possibilities of pre-implantation and prenatal genetic diagnosis with identified familial syndromes are considered very promising. The lack of such an opportunity in our country is explained not only by the insufficient acquaintance of doctors with the peculiarities of their clinical manifestations, but also by the inability to conduct modern research.
Key words: syndrome MEN-1, MEN-2, adrenal, pheochromocytoma, paraganglioma.