Clinical utility and cost-effectiveness of universal tumor screening to identify Lynch syndrome in patients with stage II/III colorectal cancer: a prospective observational study in Japan.

IF 3 3区 医学 Q3 ONCOLOGY
Takahiro Yoshioka, Yasuaki Yamamoto, Yuichiro Tsukada, Ataru Igarashi, Takeshi Kuwata, Motohiro Kojima, Yumie Hiraoka, Koji Ikeda, Yuji Nishizawa, Hideaki Bando, Kiwamu Akagi, Takayuki Yoshino, Masaaki Ito
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Abstract

Background: Universal tumor screening (UTS) for Lynch syndrome (LS) is cost-effective in Western countries; however, cost-effectiveness varies based on the frequency of hereditary diseases and testing costs. This study aimed to clarify the clinical utility and cost-effectiveness of UTS in identifying LS in patients with stage II/III colorectal cancer (CRC) in Japan.

Methods: This single-center, prospective cohort study evaluated 591 consecutive patients who underwent surgical resection for Stage II/III colorectal adenocarcinoma between 2016 and 2018. Immunohistochemistry (IHC) was used to evaluate mismatch repair (MMR) proteins. In patients with MMR deficiency, BRAF V600E mutational testing and genetic counseling/testing were performed to identify LS based on MMR deficiency patterns. Genetic counseling/testing was also conducted for blood relatives upon request. The cost-effectiveness of implementing UTS was evaluated from the perspective of healthcare payers using a Markov state-transition model, with the incremental cost-effectiveness ratio (ICER) per quality-adjusted life year (QALY) gained as the reference value.

Results: A total of 40 cases (6.8%) exhibited MMR deficiency; 12 cases (2.0%) had LS, of whom 2 (16.7%) did not meet Amsterdam criteria II or any criteria of the revised Bethesda guidelines. Eleven relatives of five LS probands underwent genetic testing, and six (54.5%) were diagnosed with LS. The ICER for UTS was JPY 0.6 million per QALY gained, substantially below the Japanese threshold of JPY 5.0-6.0 million per QALY.

Conclusions: The UTS of LS in patients with stage II/III CRC is a useful and cost-effective tool in Japan.

通用肿瘤筛查识别II/III期结直肠癌患者Lynch综合征的临床效用和成本效益:日本的一项前瞻性观察研究
背景:Lynch综合征(LS)的普遍肿瘤筛查(UTS)在西方国家具有成本效益;然而,成本效益因遗传病的频率和检测费用而异。本研究旨在阐明UTS在日本II/III期结直肠癌(CRC)患者中识别LS的临床效用和成本效益。方法:这项单中心、前瞻性队列研究评估了2016年至2018年间591例连续接受II/III期结直肠癌手术切除的患者。免疫组织化学(IHC)评价错配修复(MMR)蛋白。在MMR缺乏的患者中,进行BRAF V600E突变检测和遗传咨询/测试,以确定基于MMR缺乏模式的LS。还应要求对血亲进行遗传咨询/检测。采用马尔可夫状态转移模型从医疗保健支付者的角度评估实施UTS的成本效益,以每个质量调整生命年(QALY)的增量成本效益比(ICER)作为参考值。结果:MMR缺乏症40例(6.8%);LS 12例(2.0%),其中2例(16.7%)不符合阿姆斯特丹标准II或修订的Bethesda指南的任何标准。5名LS先证者的11名亲属接受了基因检测,其中6人(54.5%)被诊断为LS。UTS的收益率为每QALY收益60万日元,大大低于日本的每QALY收益500万至600万日元的门槛。结论:在日本,对II/III期CRC患者进行LS的UTS是一种有效且经济的工具。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
6.80
自引率
3.00%
发文量
175
审稿时长
2 months
期刊介绍: The International Journal of Clinical Oncology (IJCO) welcomes original research papers on all aspects of clinical oncology that report the results of novel and timely investigations. Reports on clinical trials are encouraged. Experimental studies will also be accepted if they have obvious relevance to clinical oncology. Membership in the Japan Society of Clinical Oncology is not a prerequisite for submission to the journal. Papers are received on the understanding that: their contents have not been published in whole or in part elsewhere; that they are subject to peer review by at least two referees and the Editors, and to editorial revision of the language and contents; and that the Editors are responsible for their acceptance, rejection, and order of publication.
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