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Japanese Journal of Clinical Oncology Advance Access originally published online on September 25, 2006
Japanese Journal of Clinical Oncology 2006 36(11):739-744; doi:10.1093/jjco/hyl089
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© 2006 Foundation for Promotion of Cancer Research

A Whole MEN1 Gene Deletion Flanked by Alu Repeats in a Family with Multiple Endocrine Neoplasia Type 1

Atsushi Fukuuchi1, Yuko Nagamura2, Hiroko Yaguchi2, Naganari Ohkura2, Takao Obara3 and Toshihiko Tsukada2,

1 Department of Breast and Endocrine Surgery, Mitsui Memorial Hospital, Tokyo
2 Tumor Endocrinology Project, National Cancer Center Research Institute, Tokyo
3 Department of Endocrine Surgery, Tokyo Women's Medical University, Tokyo, Japan

For reprints and all correspondence: Toshihiko Tsukada, Tumor Endocrinology Project, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045, Japan. E-mail: ttsukada{at}gan2.res.ncc.go.jp

Received June 5, 2006; accepted July 4, 2006

Multiple endocrine neoplasia type 1 is an autosomal dominant cancer syndrome characterized by pituitary, parathyroid and enteropancreatic endocrine tumors, which is caused by germline mutations of the tumor suppressor gene MEN1. In the case reported here, the patient had family with this disease whose germline MEN1 mutation was undetectable by conventional sequencing analysis. Further investigations involving polymorphism analyses, gene dose assay and nucleotide sequencing identified a large germline deletion of approximately 29 kilobase pairs spanning the whole MEN1 gene. The deletion was flanked by Alu repetitive sequences, suggesting unequal homologous recombination as the deletion mechanism. The polymorphism linkage data suggested that an asymptomatic son of the proband did not carry the family mutation. More direct evidence was obtained by gene dose assay and deletion-specific polymerase chain reaction, which demonstrated the normal MEN1 gene dosage and the absence of the deletion breakpoints in this asymptomatic subject and thus definitely excluded the possibility of disease predisposition.

Key Words: multiple endocrine neoplasia type 1 • MEN1 • deletion • Alu repeat


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