AUTHOR=Miranda Isabella Santiago de Melo , Valadares Luciana Pinto , Barra Gustavo Barcelos , Mesquita Pedro Góes , de Santana Lidiana Bandeira , de Castro Lucas Faria , Rita Ticiane Henriques Santa , Naves Luciana Ansaneli
TITLE=Clinical and molecular features of four Brazilian families with multiple endocrine neoplasia type 1
JOURNAL=Frontiers in Endocrinology
VOLUME=14
YEAR=2023
URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2023.1117873
DOI=10.3389/fendo.2023.1117873
ISSN=1664-2392
ABSTRACT=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.