PMID- 35018761 OWN - NLM STAT- MEDLINE DCOM- 20220311 LR - 20221217 IS - 2308-1430 (Electronic) IS - 0375-9660 (Print) IS - 0375-9660 (Linking) VI - 67 IP - 6 DP - 2021 Oct 25 TI - [Morphological characteristics of pituitary adenomas in the phenocopy of multiple endocrine neoplasia type 1]. PG - 50-58 LID - 10.14341/probl12815 [doi] AB - BACKGROUND: Multiple endocrine neoplasia type 1 (MEN 1) is a rare autosomal dominant disorder caused by mutations in the MEN1 gene, which encodes the menin protein. If a patient has the MEN 1 phenotype in the absence of mutations in the MEN1 gene, the condition is classified as a phenocopy of this syndrome. Although significant progress has been made in understanding the function of menin, its role in the oncogenesis of the endocrine glands is still being elucidated. Due to its key role in physiological and pathological processes, the assessment of the menin expression can provide valuable information. AIM: to determine whether there are any differences in the expression of menin in the pituitary adenomas (PA) in patients with phenocopy of MEN 1 (phMEN 1) and genetically confirmed MEN 1 (gMEN 1) compared with their sporadic forms. MATERIALS AND METHODS: immunohistochemical assessment of the menin expression was carried out in PA of patients with gMEN 1, phMEN 1 and sporadic acromegaly (SA), surgically treated in 2008-2020. IHC was performed using antibodies to menin, PRL, GH, ACTH, FSH, TSH, Pit-1, T-box, ERA on previously prepared histological section. RESULTS: The study included 35 samples of PA: gMEN 1 - 9 samples, phMEN 1 - 12 (somatotropinomas + PHPT); CA - 14 samples. The patients were comparable by gender, adenoma size, and drug intake. The gMEN 1 group differed from phMEN 1 and SA by age (p = 0.0005). In patients with gMEN 1, the expression of menin varied from no staining (5/9) to intense cytoplasm staining. Cytoplasmic expression of menin was mainly present (11/12) in the phMEN 1. In the SA group, there was no staining in 1 case; nuclear expression was detected in 6/14 cases. The phMEN 1 group showed significantly higher cytoplasmic expression of menin than the gMEN 1 group (p = 0.006). The gMEN 1 group also differed from the SA group (p = 0.012). There were no statistically significant differences between the phMEN 1 and SA groups (p = 0.049). CONCLUSION: It was revealed that the menin expression, in general, is retained in phMEN 1 and SA groups, although with different localization in the cell structure (nucleus and / or cytoplasm). At the same time, the expression of menin varies greatly in patients with gMEN 1. According to the data obtained, it can be assumed that the pathogenesis of PA in phMEN 1 and SA may have similarities; however, there could be factors contributing to the appearance of several tumors of the endocrine glands in one person with phMEN 1. To understand this process, it is necessary to further study the genes associated with MEN 1, epigenetic factors, signaling pathways in which menin is involved. FAU - Trukhina, D A AU - Trukhina DA AD - Endocrinology Research Centre. FAU - Mamedova, E O AU - Mamedova EO AD - Endocrinology Research Centre. FAU - Lapshina, A M AU - Lapshina AM AD - Endocrinology Research Centre. FAU - Vasilyev, E V AU - Vasilyev EV AD - Endocrinology Research Centre. FAU - Tiulpakov, A N AU - Tiulpakov AN AD - Endocrinology Research Centre; Research Centre for Medical Genetics. FAU - Belaya, Zh E AU - Belaya ZE AD - Endocrinology Research Centre. LA - rus PT - Journal Article DEP - 20211025 PL - Russia (Federation) TA - Probl Endokrinol (Mosk) JT - Problemy endokrinologii JID - 0140673 SB - IM MH - *Acromegaly MH - *Adenoma/genetics MH - Humans MH - *Multiple Endocrine Neoplasia Type 1/genetics MH - Phenotype MH - *Pituitary Neoplasms/genetics PMC - PMC9753811 EDAT- 2022/01/13 06:00 MHDA- 2022/03/12 06:00 PMCR- 2021/12/30 CRDT- 2022/01/12 06:55 PHST- 2021/09/13 00:00 [received] PHST- 2021/10/25 00:00 [accepted] PHST- 2021/10/14 00:00 [revised] PHST- 2022/01/12 06:55 [entrez] PHST- 2022/01/13 06:00 [pubmed] PHST- 2022/03/12 06:00 [medline] PHST- 2021/12/30 00:00 [pmc-release] AID - 10.14341/probl12815 [doi] PST - epublish SO - Probl Endokrinol (Mosk). 2021 Oct 25;67(6):50-58. doi: 10.14341/probl12815.