Clinical and Molecular Features of Four Brazilian Families With Multiple Endocrine Neoplasia Type 1

Multiple endocrine neoplasia type 1 (MEN-1) 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 MEN-1 in follow-up at a tertiary center in Brasilia. We reviewed 135 medical records of patients with a clinical diagnosis of Neuroendocrine Tumors with at least two affected family members from the database of the Neuroendocrinology Outpatient Clinic of the University Hospital of Brasilia. A total of 11 patients with clinical diagnoses of MEN-1 from four families were selected. Variants in the MEN1 gene were identified in all families. One individual from each family underwent genetic testing using high-throughput sequencing (HTS). All patients had primary hyperparathyroidism (PHTP) and the second most common manifestation was a pituitary neuroendocrine tumor (PitNET). One individual had well-differentiated liposarcoma, which has been previously reported in a single case of MEN-1. Three variants previously described in the database and a novel variant in exon 2 have been found. The study allowed the genotypic and phenotypic characterization of families with MEN-1 in follow-up at a tertiary center in Brasilia.