Kensuke Kumamoto1,2, Hideyuki Ishida3, Okihide Suzuki3, Yusuke Tajima3, Noriyasu Chika3, Koki Kuwabara3, Keiichiro Ishibashi3, Katsuharu Saito4, Koji Nagata5, Hidetaka Eguchi6, Junichi Tamaru7, Takeo Iwama3. 1. Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama, 350-8550, Japan. kumamotk@fmu.ac.jp. 2. Department of Organ Regulatory Surgery, Fukushima Medical University, 1 Hikarigaoka, Fukushima, 960-1295, Japan. kumamotk@fmu.ac.jp. 3. Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama, 350-8550, Japan. 4. Department of Organ Regulatory Surgery, Fukushima Medical University, 1 Hikarigaoka, Fukushima, 960-1295, Japan. 5. Department of Pathology, Saitama International Medical Center, Saitama Medical University, Saitama, 350-1298, Japan. 6. Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Saitama, 350-1241, Japan. 7. Department of Pathology, Saitama Medical Center, Saitama Medical University, Saitama, 350-8550, Japan.
Abstract
PURPOSE: The aim of this study was to investigate the prevalence of Lynch syndrome among Japanese patients with surgically resected colorectal cancer at a single institution. METHODS: Of 616 colorectal cancer patients who underwent surgical operation in our institution from January 2005 to August 2010, immunohistochemistry analyses for mismatch repair proteins (MLH1, MSH2, MSH6, and PMS2) and microsatellite instability (MSI) testing for surgically resected, formalin-fixed paraffin-embedded colorectal cancer specimens from 138 colorectal cancer patients under 60 years of age were undertaken. Hypermethylation of the MLH1 promoter and BRAF mutation were analyzed where necessary. RESULTS: Seven patients were identified as candidates for genetic testing by mismatch repair protein loss (n = 7) or MSI-H (n = 6). Methylation of MLH1 was detected in one case. Three patients were diagnosed with Lynch syndrome, comprising 2.2 % of the total colorectal cancer patients younger than 60 years of age. CONCLUSION: The prevalence of Lynch syndrome among hospital-based diagnosed cancer patients may therefore be lower than expected in Japan compared with Western populations.
PURPOSE: The aim of this study was to investigate the prevalence of Lynch syndrome among Japanese patients with surgically resected colorectal cancer at a single institution. METHODS: Of 616 colorectal cancerpatients who underwent surgical operation in our institution from January 2005 to August 2010, immunohistochemistry analyses for mismatch repair proteins (MLH1, MSH2, MSH6, and PMS2) and microsatellite instability (MSI) testing for surgically resected, formalin-fixed paraffin-embedded colorectal cancer specimens from 138 colorectal cancerpatients under 60 years of age were undertaken. Hypermethylation of the MLH1 promoter and BRAF mutation were analyzed where necessary. RESULTS: Seven patients were identified as candidates for genetic testing by mismatch repair protein loss (n = 7) or MSI-H (n = 6). Methylation of MLH1 was detected in one case. Three patients were diagnosed with Lynch syndrome, comprising 2.2 % of the total colorectal cancerpatients younger than 60 years of age. CONCLUSION: The prevalence of Lynch syndrome among hospital-based diagnosed cancerpatients may therefore be lower than expected in Japan compared with Western populations.
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