ONLINE MUTATION REPORT Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients

Multiple endocrine neoplasia type 1 (MEN1, OMIM131100) is an autosomal dominant disorder character-ised by the combination of endocrine tumours, such as parathyroid tumours, enteropancreatic tumours, anterior pituitary tumours, adrenal gland, and neuroendocrine carci-noid tumours, as well as non-endocrine expression, such as lipoma, facial angiofibroma, collagenoma, and ependymoma.1 2 Primary hyperparathyroidism (HPT) is the first manifestation of MEN1 in approximately 90 % of patients, although this percentage differed between studies.3 4 Gastri-noma is the most frequent enteropancreatic tumour, account-ing for approximately 40 % of enteropancreatic tumours.2 It has thus been suggested that MEN1 syndrome should be excluded in patients with gastrinoma.5 Prolactinomas account for 20 % of MEN1 related pituitary lesions,1 2 while other reported pituitary tumours are relatively uncommon manifes-tations of MEN1.1