Diagnostics of pheochromocytoma, primary hyperparathyroidism, and medullary thyroid cancer as components of multiple endocrine neoplasia syndrome type 2A

The article presents the results of a population study conducted by the Oncoendocrinology research group based on the research unit of the Belarusian State Medical University on the task of “Developing and implementing a method for diagnosing medullary thyroid cancer and multiple endocrine neoplasia syndrome type 2A”. Initially, data from 658 patients with medullary thyroid cancer (MTC) from the Belarusian Cancer Registry (BCR) were analyzed, a database of patients with MTC with a detailed description and analysis of clinical, laboratory, and instrumental parameters was formed. A database of patients with a clinical diagnosis of multiple endocrine neoplasia syndrome type 2A (MEN 2A) was also created, including 23 people. An algorithm for diagnosing pheochromocytoma (PHC), primary hyperparathyroidism (PHPT) and MTC as components of MEN 2A has been developed, and instructions for use have been approved for the “Method for Determining Pathogenic Mutations of the RET Proto-Oncogene for Diagnosing Hereditary Medullary Thyroid Cancer, Pheochromocytoma, and Primary Hyperparathyroidism” (Reg. No. 017-0424 dated 13.12.2024), which sets out a method for diagnosing the hereditary form of MTC and MEN 2A syndrome in first-degree relatives of patients with MTC and the presence of pathogenic RET mutations. The method can be used in a complex of medical services aimed at diagnosing the familial form of medullary cancer and MEN 2A syndrome.