Фенокопии синдрома множественных эндокринных неоплазий 1-го типа — возможные причины

Abstract

Multiple endocrine neoplasia type 1 (MEN-1) is a rare autosomal dominant disorder resulting from mutations in the MEN1 gene, which codes for the menin protein. This syndrome is marked by the development of tumors in the parathyroid glands, gastroenteropancreatic neuroendocrine tumors, pituitary adenomas, alongside other endocrine and non-endocrine tumors. In 5–10% of individuals exhibiting symptoms of MEN-1, no mutations are detected in the MEN1 gene; this clinical picture is classified as phenocopy syndrome. In such instances, mutations may reside in unexamined regions of the MEN1 gene, or alternative gene silencing mechanisms and mutations in other related genes may contribute to MEN1-associated tumor pathogenesis. Identifying a genetically confirmed MEN-1 syndrome in patients manifesting MEN-1 symptoms is essential for evaluating tumor development risks and optimizing follow-up protocols. This is particularly important since patients with genetically confirmed MEN-1 syndrome generally face a reduced life expectancy compared to the broader population and experience a more aggressive disease progression than those with clinical manifestations of the syndrome without identifiable mutations. KEYWORDS: multiple endocrine neoplasia type 1, phenocopy, genetics, epigenetics. FOR CITATION: Trukhina D.A., Mamedova E.O., Belaya Zh.E., Melnichenko G.A. Possible causes of phenocopy syndrome in multiple endocrine neoplasia type 1. Russian Medical Inquiry. 2024;8(9):526–530 (in Russ.). DOI: 10.32364/2587-6821-2024-8-9-4