Multiple endocrine neoplasia syndrome type 2

T.Yu. Demidova, Yu.S. Kishkowich

Pirogov Russian National Research Medical University, Moscow

Multiple endocrine neoplasia syndrome type 2 (multiple endocrine tumors syndrome, MEN 2) combines a group of diseases characterized by the development of a tumor and/or hyperplasia (diffuse, nodular) of the cells of neuroectodermal origin in two endocrine organs and more. The combination of medullary thyroid cancer, pheochromocytoma and lesions of the parathyroid glands is referred to MEN 2A (Sipple syndrome). The combination of medullary thyroid cancer, pheochromocytoma and multiple ganglioniomas of the mucous membrane of the gastrointestinal tract is referred to 
MEN 2B (Gorlin syndrome). To prove that relatives have a family form of medullary thyroid cancer, it is necessary to confirm the absence of a pheochromocytoma or primary hyperparathyroidism in two or more generations of the family. With the incidence in only one generation, caution is needed regarding the risk of developing pheochromocytoma (MEN 2A). In 
MEN 2A, most authors note the changes in the type of recombination in chromosome 10, in a region located near the centromere in the locus region of 10q11.2. This part contains the RET proto-oncogene, so all sporadic observations of medullary thyroid cancer should be checked for a RET mutation. The review deals with the classification, description of the diagnosis and treatment of this pathology, and gives an example of a clinical case of this disease.

Key words: multiple endocrine neoplasia syndrome type 2, Sipple syndrome, Gorlin syndrome, medullary thyroid cancer, pheochromocytoma, hyperparathyroidism, RET mutation.
For citation: Demidova T.Yu., Kishkowich Yu.S. Multiple endocrine neoplasia syndrome type 2 // RMJ. 2018. № 11(II). P. 116–121.