A novel germline mutation, 1793delG, of the MEN1 gene underlying multiple endocrine neoplasia type 1.
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.
Snabboon
Thiti
T
Department of Internal Medicine, Faculty of Medicine, Chulalongkorn University, Patumwan, Bangkok 10330, Thailand. fmedtsb@md.chula.ac.th
Plengpanich
Wanee
W
Siriwong
Sathapakorn
S
Wisedopas
Naruemon
N
Suwanwalaikorn
Sompongse
S
Khovidhunkit
Weerapan
W
Shotelersuk
Vorasuk
V
D002276:Carcinoid Tumor / Q000235:genetics*; D005260:Female; D016147:Genes, Tumor Suppressor; D018095:Germ-Line Mutation; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics*; D008215:Lymphocytes, Null; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D010375:Pedigree; D010911:Pituitary Neoplasms / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics*
C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins