Tatsuta Kyota, Sakata Mayu, Iwaizumi Moriya, Kojima Risa, Yamanaka Katsumasa, Baba Satoshi, Suzuki Katsunori, Morita Yoshifumi, Kikuchi Hirotoshi, Hiramatsu Yoshihiro, Kurachi Kiyotaka, Takeuchi Hiroya
Department of Surgery, Hamamatsu University School of Medicine, 1-20-1, Handayama, Higashi-ku, Hamamatsu, 431-3192, Shizuoka, Japan.
Department of Laboratory Medicine, Hamamatsu University School of Medicine, 1-20-1, Handayama, Higashi-ku, Hamamatsu, 431-3192, Shizuoka, Japan.
Hered Cancer Clin Pract. 2023 Jul 17;21(1):14. doi: 10.1186/s13053-023-00258-0.
This study aimed to evaluate the changes in the rates of genetic counseling and genetic testing as well as the diagnosis rate of Lynch syndrome (LS)-associated colorectal cancer before and after multistep approach with multidisciplinary team in Japanese.
In September 2016, we started universal screening for LS by mismatch repair protein immunohistochemistry and prospectively collected the records. Following patient interviews, we started multistep approach with multidisciplinary team (MA) in January 2020. MA consists of six surgeons, one genetic counselor, one medical geneticist, and six pathologists. MA is set up to compensate for patients' lack of knowledge about genetic diseases and make case selection for elderly colorectal cancer patients with deficient mismatch repair (dMMR). MA is designed as a system that could be performed by a small number of medical genetic specialists. A total of 522 patients were included during the study duration, 323 and 199 patients in the pre-MA (P-MA) and MA groups, respectively.
The frequency of dMMR in all patients was 10.0%. The patient interview results indicated a significant lack of patient education regarding genetic diseases. The rates of genetic counseling and genetic testing was significantly higher in MA group than in P-MA group (genetic counseling: MA 34.6% vs. P-MA 7.7%, p = 0.04; genetic testing: MA 30.8% vs. P-MA 3.8%, p = 0.02). Moreover, the diagnosis rate of LS-associated colorectal cancer was significantly higher in MA group (2.5%) than in P-MA group (0.3%) (P = 0.03). In addition, MA could be performed without problems despite the small number of medical and human genetics specialists.
MA has achieved appropriate pickup of suspected hereditary colorectal cancer patients and complemented the lack of knowledge about genetic diseases. The introduction of MA increased LS-associated colorectal cancer after universal screening. MA is an appropriate LS screening protocol for Japanese patients who lag behind in medical and human genetics education.
本研究旨在评估在日本采用多学科团队的多步骤方法前后，遗传咨询和基因检测的比例变化以及林奇综合征（LS）相关结直肠癌的诊断率。
2016年9月，我们开始通过错配修复蛋白免疫组化对LS进行普遍筛查，并前瞻性收集记录。在对患者进行访谈后，我们于2020年1月开始采用多学科团队的多步骤方法（MA）。MA由六名外科医生、一名遗传咨询师、一名医学遗传学家和六名病理学家组成。MA的设立是为了弥补患者对遗传疾病知识的不足，并为错配修复缺陷（dMMR）的老年结直肠癌患者进行病例筛选。MA被设计为一个可由少数医学遗传专家执行的系统。在研究期间共纳入522例患者，MA前（P-MA）组和MA组分别为323例和199例。
所有患者中dMMR的频率为10.0%。患者访谈结果表明，患者对遗传疾病的教育严重不足。MA组的遗传咨询和基因检测率显著高于P-MA组（遗传咨询：MA组为34.6%，P-MA组为7.7%，p = 0.04；基因检测：MA组为30.8%，P-MA组为3.8%，p = 0.02）。此外，MA组中LS相关结直肠癌的诊断率（2.5%）显著高于P-MA组（0.3%）（P = 0.03）。此外，尽管医学和人类遗传学专家数量较少，但MA仍可顺利进行。
MA已实现对疑似遗传性结直肠癌患者的适当识别，并弥补了遗传疾病知识的不足。MA的引入增加了普遍筛查后LS相关结直肠癌的病例数。对于在医学和人类遗传学教育方面滞后的日本患者，MA是一种合适的LS筛查方案。
