Men Syndromes: Modern Clinical and Molecular Aspects of Diagnosis and Treatment
Keywords:
MEN-1, MEN-2A, MEN-2B, RET, meninAbstract
Multiple endocrine neoplasia (MEN) syndrome is a group of hereditary diseases characterized by the development of hormonally active and inactive neoplasms in two or more endocrine organs. The article presents a generalized analysis of modern concepts of the pathogenesis, clinical course, diagnostic algorithms and principles of treatment of various forms of MEN (types 1, 2A, 2B and 4). Particular attention is paid to the molecular genetic aspects of the disease, including mutations in the MEN1, RET and CDKN1B genes that underlie the development of these syndromes. The possibilities of personalized (precision) medicine, including preventive surgery in carriers of high-risk mutations, are highlighted. A comparative analysis of current international and domestic clinical guidelines is provided. The importance of early genetic screening and the introduction of an interdisciplinary approach to the system of monitoring and managing patients with suspected MEN syndromes is emphasized.
References
1. Kravtsov V.A., Zorina A.I. Difficulties in diagnosing MEN-2B: clinical observation // Bulletin of new medical technologies. - 2022. - No. 2. - P. 112-115.
2. Kuznetsova T.I., Fadeev V.V. Multiple endocrine neoplasias: diagnostics, management, prospects // Endocrinology. - 2020. - V. 26, No. 4. - P. 303-312
3. Melnichenko G.A., Troshina E.A. Genetics and clinical features of multiple endocrine neoplasia // Clinical endocrinology. - 2016. - No. 1 (18). - P. 25-32
4. Ovchinnikova O.A., Sidorova Yu.V. The role of molecular genetic diagnostics in MEN // Practical Medicine. - 2019. - No. 10 (127). - P. 64-68.
5. Pankov Yu.A., Kravchuk Yu.P. Genetic aspects of multiple endocrine neoplasia syndrome // Medical Academic Journal. - 2021. - Vol. 21, No. 1. - P. 75–80.
6. Costante G., Meringolo D., Durante C. et al. Multiple endocrine neoplasia // Endocrinol Metab Clin North Am. – 2018. – Vol. 47(4). – P. 1001–1016.
7. Frank-Raue K., Raue F. MEN 2: from genotype to clinical phenotype // Best Pract Res Clin Endocrinol Metab. – 2010. – Vol. 24(3). – P. 371–387.
8. Marx SJ Multiple endocrine neoplasia type 1 // UpToDate. – 2022. [Electronic resource].
9. Raue F., Frank-Raue K. Update on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid Carcinoma // J Clin Endocrinol Metab. – 2018. – Vol. 103(2). – P. 350–360.
10. Wells SA, Asa SL, Dralle H. et al. Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenetics // J Intern Med. – 2013. – Vol. 273(6). – P. 584–598.
