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Japanese Journal of Clinical Oncology Advance Access published online on May 13, 2005
Japanese Journal of Clinical Oncology, doi:10.1093/jjco/hyi080
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© 2005 Foundation for Promotion of Cancer Research
Received March 27, 2005
Accepted April 4, 2005

Cancer and Genetics Report

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

Thiti Snabboon 1*, Wanee Plengpanich 1, Sathapakorn Siriwong 1, Naruemon Wisedopas 2, Sompongse Suwanwalaikorn 1, Weerapan Khovidhunkit 1, and Vorasuk Shotelersuk 3

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

* To whom correspondence should be addressed.
Thiti Snabboon, E-mail: fmedtsb{at}md.chula.ac.th


  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.

Keywords: multiple endocrine neoplasia type 1; pulmonary carcinoid; pituitary macroadenoma.
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