Clinical and molecular features of four Brazilian families with multiple endocrine neoplasia type 1

Frontiers in Endocrinology

Endocrinology

Gustavo Barcelos Barra¹  Pedro Góes Mesquita¹  Ticiane Henriques Santa Rita¹  Luciana Pinto Valadares²  Isabella Santiago de Melo Miranda³  Lucas Faria de Castro³  Lidiana Bandeira de Santana³  Luciana Ansaneli Naves³ 

[1] Genomics Section, Sabin Medicina Diagnóstica, Brasília, Brazil;SARAH Network Rehabilitation Hospitals, Brasilia, Brazil;Section of Endocrinology, University Hospital of Brasilia, Brasilia, Brazil;

关键词: multiple endocrine neoplasia type 1;    primary hyperparathyroidism;    pituitary adenoma;    gastroenteropancreatic tumor;    menin gene;    variants;    molecular test;   

DOI  :  10.3389/fendo.2023.1117873

 received in 2022-12-07, accepted in 2023-02-20,  发布年份 2023

来源: Frontiers

【 摘 要 】

ObjectiveMultiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome characterized by its clinical variability and complexity in diagnosis and treatment. We performed both clinical and molecular descriptions of four families with MEN1 in a follow-up at a tertiary center in Brasília.MethodsFrom a preliminary review of approximately 500 medical records of patients with pituitary neuroendocrine tumor (PitNET) from the database of the Neuroendocrinology Outpatient Clinic of the University Hospital of Brasília, a total of 135 patients met the criteria of at least two affected family members. From this cohort, we have identified 34 families: only four with a phenotype of MEN1 and the other 30 families with the phenotype of familial isolated pituitary adenoma (FIPA). Eleven patients with a clinical diagnosis of MEN1 from these four families were selected.ResultsVariants in MEN1 gene were identified in all families. One individual from each family underwent genetic testing using targeted high-throughput sequencing (HTS). All patients had primary hyperparathyroidism (PHPT), and the second most common manifestation was PitNET. One individual had well-differentiated liposarcoma, which has been previously reported in a single case of MEN1. Three variants previously described in the database and a novel variant in exon 2 have been found.ConclusionsThe study allowed the genotypic and phenotypic characterization of families with MEN1 in a follow-up at a tertiary center in Brasília.

【 授权许可】

Unknown   
Copyright © 2023 Miranda, Valadares, Barra, Mesquita, de Santana, de Castro, Rita and Naves