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Japanese Journal of Clinical Oncology Advance Access originally published online on May 19, 2006
Japanese Journal of Clinical Oncology 2006 36(6):395-397; doi:10.1093/jjco/hyl023
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© 2006 Foundation for Promotion of Cancer Research

Cancer Genetics Report

Novel 14 Base-Pair Deletion of the MEN1 Gene in a Patient with Recurrent Primary Hyperparathyroidism

Miyuki Katai1, Akihiro Sakurai1,2, Shinya Uchino3, Kesami Minemura4, Kiyoshi Hashizume1 and Yoshimitsu Fukushima2

1 Department of Aging Medicine and Geriatrics and 2 Department of Preventive Medicine, Shinshu University School of Medicine, Matsumoto, Nagano, 3 Noguchi Thyroid Clinic and Hospital Foundation, Beppu, Oita and 4 Shinonoi General Hospital, Nagano, Japan

For reprints and all correspondence: Akihiro Sakurai, Division of Molecular Genetics, Department of Preventive Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan. E-mail: sakurai{at}sch.md.shinshu-u.ac.jp

Received February 10, 2006; accepted March 23, 2006

MEN1 is the causative gene for multiple endocrine neoplasia type 1 (MEN1), a hereditary syndrome characterized by hyperplastic and neoplastic disorder of endocrine organs such as parathyroid, anterior pituitary and gastroenteropancreatic endocrine tissues. More than 300 germline mutations have already been reported in patients with MEN1. We here report a novel deletional mutation identified in a Japanese woman with apparently sporadic recurrent hyperparathyroidism. Genetic testing revealed a heterozygous deletion involving 14 bp in exon 6 (starting at amino acid codon 293) of MEN1, which results in early termination of the protein. This deletional mutation has not previously been described elsewhere.

Key Words: multiple endocrine neoplasia type 1 • mutation • parathyroid hyperplasia


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