Univ. Lille, CNRS, Inserm, CHU Lille, UMR9020-U1277 - CANTHER - Cancer - Heterogeneity Plasticity and Resistance to Therapies, Lille, France.
Genetics Department, Hospices Civils de LYON (HCL), University Hospital, East Pathology Center, Lyon, France.
Eur J Endocrinol. 2022 May 24;187(1):K1-K6. doi: 10.1530/EJE-22-0171.
MEN1 is an autosomal dominant hereditary syndrome characterized by several endocrine tumors, in most cases affecting the parathyroid glands, pancreas, and anterior pituitary. It is the result of inactivating mutations in the tumor suppressor gene MEN1. More than 1300 different mutations have been identified in this gene. Mosaic MEN1 mutations have been previously described in only a few patients in the literature. In this paper, we provide a review of six cases of MEN1 mosaicism reported in the literature supplemented with six additional cases described by the French TENgen network of laboratories. This review highlights that (i) MEN1 mosaicism is not associated with a mild phenotype and results in the same natural history as heterozygous MEN1 mutation and (ii) that more systematic detection of MEN1 mosaic mutation enables improvements in both patient monitoring and genetic counseling.
MEN1 是一种常染色体显性遗传综合征，其特征是存在多种内分泌肿瘤，在大多数情况下，这些肿瘤会影响甲状旁腺、胰腺和垂体前叶。它是肿瘤抑制基因 MEN1 失活突变的结果。在该基因中已经发现了超过 1300 种不同的突变。文献中先前仅描述过少数几个患有镶嵌型 MEN1 突变的患者。本文对文献中报道的六例 MEN1 镶嵌突变病例进行了综述，并补充了由法国 TENgen 实验室网络描述的另外六例病例。该综述强调：（i）MEN1 镶嵌突变与轻度表型无关，并且导致与杂合性 MEN1 突变相同的自然病史；（ii）更系统地检测 MEN1 镶嵌突变可改善患者监测和遗传咨询。
