Scholarlink

Background <p>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.</p> Methods <p>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, <i>BRAF</i> 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.</p> Results <p>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&#xa0;million per QALY gained, substantially below the Japanese threshold of JPY 5.0–6.0&#xa0;million per QALY.</p> Conclusions <p>The UTS of LS in patients with stage II/III CRC is a useful and cost-effective tool in Japan.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

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

  • 期刊论文

  • 发表日期：

    2026年8月4日

查看全文
  • 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

摘要

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.