Diagnostics of pheochromocytoma, primary hyperparathyroidism, and medullary thyroid cancer as components of multiple endocrine neoplasia syndrome type 2A
https://doi.org/10.29235/1814-6023-2026-23-1-39-48
Abstract
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.
Keywords
pheochromocytoma,
primary hyperparathyroidism,
medullary thyroid cancer,
multiple endocrine neoplasia syndrome type 2A,
calcitonin,
RET Proto-Oncogene
Supporting agencies: The work was carried out within the framework of the state scientific and technical program “Scientific and technical support for the quality and availability of medical services”, subprogram “Malignant tumors” for the period 2019–2023 under task 03.12 “Develop and implement a method for diagnosing medullary thyroid cancer and multiple endocrine neoplasia syndrome type 2A”.
About the Authors
A. P. Shepelkevich
Belarusian State Medical University
Belarus
Belarus
Alla P. Shepelkevich – D. Sc. (Med.), Professor
83, Dzerzhinsky Ave., 220083, Minsk
Yu. V. Dydyshko
Belarusian State Medical University
Belarus
Belarus
Yulia V. Dydyshko – Ph. D. (Med.), Associate Professor
83, Dzerzhinsky Ave., 220083, Minsk
E. V. Yurenya
Minsk City Clinical Endocrinology Center
Belarus
Belarus
Elena V. Yurenya – Chief Medical Officer
31, Mayakovsky Str., 220006, Minsk
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Review
For citations:
Shepelkevich A.P., Dydyshko Yu.V., Yurenya E.V. Diagnostics of pheochromocytoma, primary hyperparathyroidism, and medullary thyroid cancer as components of multiple endocrine neoplasia syndrome type 2A. Proceedings of the National Academy of Sciences of Belarus, Medical series. 2026;23(1):38-48. (In Russ.) https://doi.org/10.29235/1814-6023-2026-23-1-39-48
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