A novel germline mutation, 1793delG, of the MEN1 gene underlying multiple endocrine neoplasia type 1

Abstract

Pulmonary carcinoids are rare neuroendocrine tumors which comprise 1-2% of all lung tumors. They usually occur sporadically; however, their association with multiple endocrine neoplasia type 1 (MEN1) syndrome has been documented. We report a case of a Thai woman with a pulmonary carcinoid tumor and a null cell pituitary tumor. Her family history was unremarkable for any MEN-related lesions. Genetic testing revealed a novel deletion mutation at exon 10 (1793delG) of the MEN1 gene, resulting in a stop codon 26 amino acids downstream. This mutation is predicted to cause a loss of the second nuclear localization signal of the menin protein. © 2005 Foundation for Promotion of Cancer Research.