Analysis of the MEN1 gene in sporadic pituitary adenomas from Japanese patients.

An autosomal-dominant syndrome known as multiple endocrine neoplasia type 1 (MEN1) is characterized by tumors in parathyroid glands, pancreatic endocrine tissues and the anterior pituitary gland. The predisposing gene was identified at 11q13 when germline mutations in the MEN1 gene were detected in affected pedigrees. To investigate a possible role of this gene in tumorigenesis of non-familial pituitary adenomas, we examined 24 sporadic tumors from Japanese patients for loss of heterozygosity (LOH) at the 11q13 region and for somatic mutations in the entire coding region and exon-intron boundaries of MEN1. Although three common sequence variants were detected, none of the tumors exhibited either LOH or somatic mutations of this gene. Our results indicate that inherited and sporadic forms of pituitary adenomas are different in terms of the genetic events that contribute to their development, and that other loci associated with pituitary neoplasia must still be sought.