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一名意大利 1 型多发性内分泌肿瘤患者的 MEN1 致病性新变异。

A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1.

机构信息

Endocrinology, Università Cattolica del Sacro Cuore, Fondazione Policlinico "Gemelli" IRCCS, Largo Gemelli 8, 00168, Rome, Italy.

Institute of Biochemistry and Clinical Biochemistry, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma Largo Gemelli 8, 00168, Rome, Italy.

出版信息

Mol Biol Rep. 2020 Sep;47(9):7313-7316. doi: 10.1007/s11033-020-05730-x. Epub 2020 Aug 17.

DOI:10.1007/s11033-020-05730-x
PMID:32808116
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7430936/
Abstract

The multiple endocrine neoplasia type 1 (MEN1) is a rare syndrome characterized by the predisposition to developing multiple endocrine and non-endocrine tumors, typically characterized by the association between parathyroid gland hyperplasia or tumors, gastroenteropancreatic tumors and pituitary adenomas. The MEN1 gene is located on the long arm of chromosome 11 (11q13) and it encodes for the protein "menin". We here reported the case of a MEN1-patient, affected by primary hyperparathyroidism, insulinoma, pituitary non-hyperfunctioning adenoma and bilateral adrenal masses, carrying a novel heterozygous pathogenic variant (c.1252_1254delGACinsAT), located in exon 9 of MEN1 gene.

摘要

多发性内分泌腺肿瘤 1 型（MEN1）是一种罕见的综合征，其特征是易发生多种内分泌和非内分泌肿瘤，通常表现为甲状旁腺增生或肿瘤、胃肠胰腺肿瘤和垂体腺瘤之间的关联。MEN1 基因位于 11 号染色体长臂（11q13）上，它编码“menin”蛋白。我们在此报告了一例 MEN1 患者的病例，该患者患有原发性甲状旁腺功能亢进症、胰岛素瘤、垂体无功能腺瘤和双侧肾上腺肿块，携带位于 MEN1 基因外显子 9 中的新型杂合致病性变异（c.1252_1254delGACinsAT）。

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Endocrine. 2017 Nov;58(2):349-359. doi: 10.1007/s12020-017-1234-4. Epub 2017 Jan 28.
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