Abstract
Heterozygous germline mutation of the MEN1 tumor suppressor gene is responsible for multiple endocrine neoplasia type 1. Parathyroid and thoracic neuroendocrine tumor specimens and DNA from two Han Chinese MEN1 family patients were analyzed using whole exome and Sanger sequencing. The proband (II-3) was sequentially diagnosed with pituitary adenoma, pancreatic tumor, adrenal cortical tumor, abdominal lipoma, and parathyroid adenoma during the 6-year follow-up. The son of the proband (III-6) was also diagnosed with a thoracic neuroendocrine tumor and a parathyroid adenoma during this period. Splice alterations were studied by RT-PCR and sequencing. The mutation impact was evaluated using bioinformatics. Sequence analysis revealed a novel splice donor mutation, MEN1 IVS9 + 1G > C, that changed the splicing mode of MEN1 to halt translation before two nuclear localization signals in the menin protein. Novel somatic mutations, MEN1 c.1402_1405delGAGG and c.286 C > T, were identified in the parathyroid adenoma of II-3 and thoracic neuroendocrine tumor of III-6, respectively, indicating a two-hit etiology of MEN1 syndrome. Our study revealed the clinical and genetic basis of MEN1 in this Han Chinese family and provides insight into MEN1 mechanisms, diagnosis, and management.
Highlights
Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disease characterized by the occurrence of tumors involving two or more endocrine glands within a single patient [1]
Subsequent examinations indicated that the pituitary adenoma had been controlled
Abdominal computed tomography (CT) revealed a 4 × 3 cm solid mass localized in the pancreatic head, bilateral renal stones, bilateral adrenal nodules, and abdominal lipoma (Figure 1)
Summary
Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disease characterized by the occurrence of tumors involving two or more endocrine glands within a single patient [1]. The estimated worldwide prevalence of MEN1 is between 1/30000 and 1/500000 [1, 2]. Clinical treatment and long-term follow-up are rarely reported in the literature. MEN1-associated tumors usually occur in multiples, readily metastasize, involve multiple organs, and are larger than sporadic endocrine tumors. The treatments for each type of MEN1-associated endocrine tumor are similar to those of non-MEN1 patients, but the outcomes of MEN1-associated tumors are less successful [1]. A thorough understanding of clinical features with long-term follow-up data is essential for the management of MEN1
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