INTESTINE Vol.25 No.1(2-4)


特集名 大腸癌のスクリーニングとサーベイランスの標準化に向けて─新しい知見から
題名 サーベイランス (4) 家族性大腸腺腫症とリンチ症候群の診療─「遺伝性大腸癌診療ガイドライン」2020年版の紹介と活用のポイント
発刊年月 2021年 05月
著者 中島 健 癌研有明病院臨床遺伝医療部
【 要旨 】 「遺伝性大腸癌診療ガイドライン」は2度目の改訂を迎えた.遺伝性大腸癌の代表例である家族性大腸腺腫症(FAP)とリンチ症候群を中心に取り扱っている.とくにリンチ症候群はFAPほど明確なphenotypeをもたないため,診断の手順が煩雑である.またそれぞれの確定診断に必要なAPC遺伝子,ミスマッチ修復遺伝子の遺伝学的検査も保険収載されていない.このようにガイドラインで提示されている診断手順が保険収載されていないことは大問題であるが,各施設にて自由診療をうまく組み合わせた診療体制を構築していただきたい.またそれぞれ非典型例も存在する.本稿では経験した症例と診療のポイントを提示したい.
Theme Colorectal cancer screening and surveillance -- Prospects towards standardization from new findings
Title Points of medical care for familial adenomatous polyposis and Lynch syndrome based on the JSCCR Guideline 2020 for Clinical Practice of Hereditary Colorectal Cancer
Author Takeshi Nakajima Department of Clinical Genetics, Cancer Institute Hospital of Japanese Foundation for Cancer Research
[ Summary ] JSCCR guidelines 2020 for the Clinical Practice of Hereditary Colorectal Cancer was republished. These guidelines primarily dealt with reports on familial adenomatous polyposis (FAP) and Lynch syndrome. The diagnosis of Lynch syndrome in patients remain somewhat difficult because there is no definite clinical phenotype of Lynch syndrome, as opposed to FAP. In addition, genetic testings based on the APC gene and mismatch repair genes required for definitive diagnosis in each patient is not covered by Japanese health insurance. The fact that the diagnostic procedure recommended in the guideline is not covered by Japanese health insurance represents a major issue. However, it is important to build a medical care system that combines free medical care. In addition, there are many atypical cases encountered clinically. In this report I would like to present the clinical cases that I have worked on, with a particular emphasis on the points of medical care.
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