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Japanese Journal of Clinical Oncology Advance Access originally published online on May 13, 2005
Japanese Journal of Clinical Oncology 2005 35(5):280-282; doi:10.1093/jjco/hyi080
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© 2005 Foundation for Promotion of Cancer Research

Cancer and Genetics Report

A Novel Germline Mutation, 1793delG, of the MEN1 Gene Underlying Multiple Endocrine Neoplasia Type 1

Thiti Snabboon1, Wanee Plengpanich1, Sathapakorn Siriwong1, Naruemon Wisedopas2, Sompongse Suwanwalaikorn1, Weerapan Khovidhunkit1 and Vorasuk Shotelersuk3

1 Department of Internal Medicine, 2 Department of Pathology and 3 Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand

For reprints and all correspondence: Thiti Snabboon, Department of Internal Medicine, Faculty of Medicine, Chulalongkorn University, Rama IV Road, Patumwan, Bangkok 10330, Thailand. E-mail: fmedtsb{at}md.chula.ac.th

Received March 27, 2005; accepted April 4, 2005

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.

Key Words: multiple endocrine neoplasia type 1 • pulmonary carcinoid • pituitary macroadenoma


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