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Multiple Endocrine Neoplasia type-1 (MEN1) is an autosomal dominant disorderwith a combined occurrence of tumours of parathyroid glands, pancreaticislets, and anterior pituitary. About 90% of these patients carrymutations in the MEN1 gene, though the spectrum is not well defined inIndia. Forty clinically suspected cases of MEN1 were enrolled prospectivelyover six years; 32 patients (23 index-cases and nine affected relatives)with≥2 classical endocrine tumours of MEN1 were considered definite,and eight were categorised as ‘MEN1-like’. Details of theirclinical presentation, treatment and mutational analysis including MEN1gene, 3′ and 5′ untranslated regions (UTR) of MEN1, CDKN1B,and CaSR genes were collated. Asymptomatic first-degree relatives were alsoscreened. Among the 32 definite MEN1 patients, all had primaryhyperparathyroidism, 22 (68.7%) had gastroentero-pancreaticneuroendocrine tumours, and 21 (66%) had pituitary adenoma. Of the23 definite index-cases, 13 (56.5%) carried mutations in the MEN1gene. Five of nine affected first-degree relatives (55.5%), and fourof 10 asymptomatic relatives (40%) also had MEN1 mutations. Seven of10 MEN1 mutation-negative definite index-cases harboured p.V109Gpolymorphism in the CDKN1B gene. All eight MEN1-like cases were negative formutations and large deletions in MEN1, mutations in 3′ and5′ UTR of MEN1, CaSR and CDKN1B genes. The study has helped toclearly document the pattern of mutations among Indian MEN1 patients.However, the absence of MEN1 mutation in ~44% of cases andthe presence of p.V109G polymorphism in CDKN1B gene raise the questionwhether such polymorphisms could independently contribute topathogenesis.

hormone and metabolic research

Clinical Profile and Mutations Associated with Multiple Endocrine Neoplasia-Type1 (MEN1) and Their First-Degree Relatives at Risk of Developing MEN1: A Prospective Study