内容紹介
Familial Gastric Cancer―An Update of Japanese Cases
Summary
Since the international gastric cancer linkage consortium first proposed screening criteria for the detection of CDH1 germline mutations in hereditary diffuse gastric cancer(HDGC), the low yields of previous attempts to identify patients with HDGC in Japan, where gastric cancer is endemic and mass screenings for it have been established, have made clinicians less enthusiastic about pursuing the genetic etiology of the peculiar occurrence of gastric cancer. A report published in 2011 described a case with a typical truncated mutation of CDH1 and another with an exon 3 deletion of this gene. These findings have rekindled the curiosity of practicians and pathologists confronted with unusual gastric cancers of various types such as younger-onset, familial clustering, or the exhibition of a specific characteristic morphology. The status and history of the investigation of the genetic backgrounds of Japanese gastric cancers are reviewed, and the pathological features of the Japanese cases of HDGC are described.
要旨
胃癌の遺伝連鎖解析国際コンソーシアムが,遺伝性びまん性胃癌(HDGC)のCDH1のスクリーニングをするための診断基準を提案して以来,胃癌の頻度が高く,また集団検診も確立されている本邦での探索は,実り多かったとはいえず,そのことが日常診療で胃癌の遺伝的要因への追求があまりなされなくなった理由なのではと思われる。2011年の,典型的なCDH1の欠損蛋白を生じるタイプの変異例とさらにCDH1のエクソン3の欠失例が本邦にも存在したという報告は,改めて,日常診療の上で若年発症,家族性発症,特異な組織像といったまれな胃癌例に遭遇する実地診療家や病理医の胃癌の遺伝的要因についての関心を呼び起こすと思われる。本邦における胃癌の遺伝的要因の歴史を概観し,本邦のHDGCの組織像を呈示する。
目次
Summary
Since the international gastric cancer linkage consortium first proposed screening criteria for the detection of CDH1 germline mutations in hereditary diffuse gastric cancer(HDGC), the low yields of previous attempts to identify patients with HDGC in Japan, where gastric cancer is endemic and mass screenings for it have been established, have made clinicians less enthusiastic about pursuing the genetic etiology of the peculiar occurrence of gastric cancer. A report published in 2011 described a case with a typical truncated mutation of CDH1 and another with an exon 3 deletion of this gene. These findings have rekindled the curiosity of practicians and pathologists confronted with unusual gastric cancers of various types such as younger-onset, familial clustering, or the exhibition of a specific characteristic morphology. The status and history of the investigation of the genetic backgrounds of Japanese gastric cancers are reviewed, and the pathological features of the Japanese cases of HDGC are described.
要旨
胃癌の遺伝連鎖解析国際コンソーシアムが,遺伝性びまん性胃癌(HDGC)のCDH1のスクリーニングをするための診断基準を提案して以来,胃癌の頻度が高く,また集団検診も確立されている本邦での探索は,実り多かったとはいえず,そのことが日常診療で胃癌の遺伝的要因への追求があまりなされなくなった理由なのではと思われる。2011年の,典型的なCDH1の欠損蛋白を生じるタイプの変異例とさらにCDH1のエクソン3の欠失例が本邦にも存在したという報告は,改めて,日常診療の上で若年発症,家族性発症,特異な組織像といったまれな胃癌例に遭遇する実地診療家や病理医の胃癌の遺伝的要因についての関心を呼び起こすと思われる。本邦における胃癌の遺伝的要因の歴史を概観し,本邦のHDGCの組織像を呈示する。