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Multiple endocrine neoplasia type 1 in Brazil: MEN1 founding mutation, clinical features, and bone mineral density profile

Unidade de Endocrinologia GenéticaLaboratório de Investigação Médica (LIM 25), Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Av. Dr. Enéas de Carvalho, 455 – 5° Andar, Cerqueira Cesar, São Paulo 01246-903, SP, Brasil¹ Departamento de Cirurgia de Cabeça e Pescoço da FMUSPSão Paulo, Brasil² Departamento de Patologia Cirúrgica da FMUSPSão Paulo, Brasil³ Departamento de Dermatologia da FMUSPSão Paulo, Brasil⁴ Departamento de Cirurgia geral da FMUSPSão Paulo, Brasil

(Correspondence should be addressed to S P A Toledo; Email: toldo{at}usp.br)

Objective: Only few large families with multiple endocrine neoplasia type 1 (MEN1) have been documented. Here, we aimed to investigate the clinical features of a seven-generation Brazilian pedigree, which included 715 at-risk family members.

Design: Genealogical and geographic analysis was used to identify the MEN1 pedigree. Clinical and genetic approach was applied to characterize the phenotypic and genotypic features of the family members.

Results: Our genetic data indicated that a founding mutation in the MEN1 gene has occurred in this extended Brazilian family. Fifty family members were diagnosed with MEN1. Very high frequencies of functioning and non-functioning MEN1-related tumors were documented and the prevalence of prolactinoma (29.6%) was similar to that previously described in prolactinoma-variant Burin (32%). In addition, bone mineral density analysis revealed severe osteoporosis (T, –2.87±0.32) of compact bone (distal radius) in hyperparathyroidism (HPT)/MEN1 patients, while marked bone mineral loss in the lumbar spine (T, –1.95±0.39), with most cancellous bone, and femoral neck (mixed composition; T, –1.48±0.27) were also present.

Conclusions: In this study, we described clinically and genetically the fifth largest MEN1 family in the literature. Our data confirm previous findings suggesting that prevalence of MEN1-related tumors in large families may differ from reports combining cumulative data of small families. Furthermore, we were able to evaluate the bone status in HPT/MEN1 cases, a subject that has been incompletely approached in the literature. We discussed the bone loss pattern found in our MEN1 patients comparing with that of patients with sporadic primary HPT.