Hereditary diffuse gastric cancer in a Japanese family with a large deletion involving CDH1
| Autor: | Satoshi Yamashita, Yutaka Saito, Ryoji Kushima, Eriko Okochi-Takada, Shigeki Sekine, Kiyoshi Asada, Hitoshi Katai, Hirokazu Taniguchi, Masayoshi Yamada, Takeshi Nakajima, Takeo Fukagawa, Ichiro Oda, Toshikazu Ushijima |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
Male Cancer Research Pathology medicine.medical_specialty Genetic counseling medicine.medical_treatment Germline mutation Asian People Antigens CD Gastrectomy Stomach Neoplasms Surgical oncology medicine Carcinoma Humans Genetic Predisposition to Disease Sequence Deletion business.industry Signet ring cell Gastroenterology General Medicine Middle Aged Cadherins medicine.disease Oncology Female Hereditary diffuse gastric cancer business Carcinoma Signet Ring Cell Comparative genomic hybridization |
| Zdroj: | Gastric Cancer. 17:750-756 |
| ISSN: | 1436-3305 1436-3291 |
| Popis: | Hereditary diffuse gastric cancer (HDGC), characterized by susceptibility to gastric signet ring cell carcinomas (SRCCs) and caused by CDH1 germline mutations, is rare in the Japanese. We present here a Japanese family with HDGC identified by comparative genomic hybridization (CGH) analysis. A 55-year-old woman was treated with completion gastrectomy for multiple SRCCs, and pathological examination revealed approximately 200 foci of SRCC with loss of E-cadherin expression. Her 30-year-old son had surveillance endoscopy and was found to have multiple SRCCs. He underwent total gastrectomy, and 32 foci of SRCC with loss of E-cadherin expression were histologically found. Although no point mutations were detected in CDH1 by sequencing, CGH revealed a 275-kb deletion involving exons 7-16 of CDH1 in both patients. While only a few HDGCs have been reported in East Asia, patients with multiple SRCC may need to be offered appropriate genetic counseling and testing in this area. |
| Databáze: | OpenAIRE |
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