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Japanese Journal of Clinical Oncology 2004 34(9):556-560; doi:10.1093/jjco/hyh092
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© 2004 Foundation for Promotion of Cancer Research

Cancer Genetics Report

The Novel Germline Mutation of the hMLH1 Gene in a Case of Suspected Hereditary Non-polyposis Colorectal Cancer (HNPCC) in a Patient with No Family History of Cancer

Naohiro Tomita1, Mutsumi Fukunaga1, Shu Okamura1, Ken Nakata1, Hiroki Ohzato1, Shigeyuki Tamura1, Keishi Sugimoto1, Tomohiko Aihara1, Hirofumi Miki1, Yuuichi Takatsuka1, Nariaki Matsuura2, Hideki Ishikawa3, Takeshi Iwanaga4, Noriko Fukayama5 and Kokichi Sugano5

1 Department of Surgery, Kansai Rosai Hospital, Amagasaki, Hyogo, 2 Department of Pathology, School of Allied Health Science, Faculty of Medicine, Osaka University, Suita, Osaka, 3 Hyogo Medical College, Nishinomiya, Hyogo, 4 Aino-Gakuen College, Ibaraki, Osaka and 5 Oncogene Research Unit/Cancer Prevention Unit, Tochigi Cancer Center Research Institute, Utsunomiya, Japan

For reprints and all correspondence: Naohiro Tomita, Department of Surgery, Kansai Rosai Hospital, 3-1-69 Inabaso, Amagasaki 660-8511, Japan. E-mail: ntomita{at}kanrou.net

Received May 7, 2004; accepted June 10, 2004

Abstract

Hereditary non-polyposis colorectal cancer (HNPCC) is a very important clinical entity in oncology. In order to identify HNPCC, the international diagnostic criteria, named ‘Amsterdam criteria’, has been used. In this report, we present a patient with HNPCC who completely lacks a family history of cancer, thus does not meet the revised Amsterdam criteria and was finally confirmed as HNPCC by genetic testing which revealed a novel germline mutation of the hMLH1 gene. The proband was a 52-year-old Japanese female with a diagnosis of advanced ascending colon cancer. She had a past history of Miles' operation for rectal cancer at the age of 40. A subtotal colectomy was performed and the subsequent microsatellite instability (MSI) analysis revealed high MSI in the resected tumor tissue. PCR/direct sequencing analysis of the genomic DNA revealed the base deletion 2006delAAAAG at codon 669 in exon 18 of the hMLH1 gene, which was considered to be a pathogenic mutation. According to the Human Mutation Database and International Collaborative Group on HNPCC (ICG-HNPCC) Database, this is the first report of this type of deletion mutation in the hMLH1 gene.

Key Words: genetic testing • hereditary non-polyposis colorectal cancer (HNPCC) • hMLH1 • microsatellite instability (MSI) • revised Amsterdam Criteria


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