多学科团队采用多步骤方法提高普遍筛查后Lynch综合征相关结直肠癌的诊断率:日本一项单中心研究

IF 2 4区医学 Q3 ONCOLOGY Hereditary Cancer in Clinical Practice Pub Date : 2023-07-17 DOI:10.1186/s13053-023-00258-0

Kyota Tatsuta, Mayu Sakata, Moriya Iwaizumi, Risa Kojima, Katsumasa Yamanaka, Satoshi Baba, Katsunori Suzuki, Yoshifumi Morita, Hirotoshi Kikuchi, Yoshihiro Hiramatsu, Kiyotaka Kurachi, Hiroya Takeuchi

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引用次数: 0

摘要

背景:本研究旨在评估日本多学科团队在多步骤方法治疗前后Lynch综合征(LS)相关结直肠癌的遗传咨询率、基因检测率及诊断率的变化。方法:2016年9月开始采用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。在患者访谈之后，我们于2020年1月与多学科团队(MA)开始了多步骤方法。MA由6名外科医生、1名遗传咨询师、1名医学遗传学家和6名病理学家组成。MA的建立是为了弥补患者对遗传疾病知识的缺乏，并对老年结直肠癌dMMR缺陷患者进行病例选择。MA被设计成一个可以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前组(P-MA)和MA组分别为323例和199例。结果:所有患者dMMR发生率为10.0%。患者访谈结果表明，明显缺乏关于遗传疾病的患者教育。MA组遗传咨询和基因检测率显著高于p -MA组(遗传咨询:MA 34.6% vs p -MA 7.7%， p = 0.04;基因检测:MA 30.8% vs p -MA 3.8%， p = 0.02)。MA组ls相关结直肠癌诊断率(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的数量很少，但进行MA也可以没有问题。结论:MA实现了对疑似遗传性结直肠癌患者的适当拾取，补充了遗传疾病知识的不足。MA的引入增加了ls相关结直肠癌的普遍筛查。对于医学和人类遗传学教育落后的日本患者，MA是一种合适的LS筛查方案。

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Using a multistep approach with multidisciplinary team to increase the diagnosis rate of Lynch syndrome-associated colorectal cancer after universal screening: a single-center study in Japan.

Backgrounds: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

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来源期刊

Hereditary Cancer in Clinical Practice 医学-肿瘤学

CiteScore

3.10

自引率

5.90%

发文量

审稿时长

>12 weeks

期刊介绍： Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.