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Introduction <p>Lynch syndrome (LS) is an autosomal-dominant hereditary disorder caused by germline pathogenic variants in mismatch repair (<i>MMR</i>) genes, predisposing individuals to multiple malignancies. In Japan, universal screening for LS, such as through microsatellite instability (MSI) testing, is not widely implemented. Moreover, <i>MMR</i> genetic testing is not covered by insurance, often leading to missed diagnoses.</p> Case presentation <p>We present a rare case of a 72-year-old woman with LS who developed nine metachronous cancers over 35&#xa0;years, including colorectal, endometrial, gastric, breast, and skin cancers, one of the highest numbers reported in a single patient. She had a family history of cancer. MSI testing of colorectal cancer tissues revealed MSI-high status; therefore, LS was suspected. The definitive diagnosis was established through germline genetic testing, which identified pathogenic <i>MLH1</i> variants. Each cancer was treated with curative resection. The patient remained disease-free for 3.8&#xa0;years after her most recent skin cancer surgery.</p> Conclusion <p>This case underscores the importance of early detection, systematic surveillance, and timely intervention in achieving long-term survival in patients with LS. It highlights the potential for early diagnosis, optimal management, and improved outcomes through comprehensive cross-organ monitoring and emphasizes the need for expanded LS screening, including <i>MMR</i> genetic testing.</p>

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A case of Lynch syndrome diagnosed after nine metachronous cancers detected over 35 years

  • 期刊论文

  • 发表日期：

    2026年4月27日

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  • Yoshito Tsuji,
  • Akira Inoue,
  • Masahiro Hashimoto,
  • Shinya Kato,
  • Yoshihiro Morimoto,
  • Yujiro Nishizawa,
  • Yoshinori Kagawa,
  • Taishi Hata,
  • Masashi Hirota,
  • Takuya Inoue,
  • Kohki Shimazu,
  • Kiwamu Akagi,
  • Masaaki Motoori,
  • Kazumasa Fujitani

摘要

Introduction

Lynch syndrome (LS) is an autosomal-dominant hereditary disorder caused by germline pathogenic variants in mismatch repair (MMR) genes, predisposing individuals to multiple malignancies. In Japan, universal screening for LS, such as through microsatellite instability (MSI) testing, is not widely implemented. Moreover, MMR genetic testing is not covered by insurance, often leading to missed diagnoses.

Case presentation

We present a rare case of a 72-year-old woman with LS who developed nine metachronous cancers over 35 years, including colorectal, endometrial, gastric, breast, and skin cancers, one of the highest numbers reported in a single patient. She had a family history of cancer. MSI testing of colorectal cancer tissues revealed MSI-high status; therefore, LS was suspected. The definitive diagnosis was established through germline genetic testing, which identified pathogenic MLH1 variants. Each cancer was treated with curative resection. The patient remained disease-free for 3.8 years after her most recent skin cancer surgery.

Conclusion

This case underscores the importance of early detection, systematic surveillance, and timely intervention in achieving long-term survival in patients with LS. It highlights the potential for early diagnosis, optimal management, and improved outcomes through comprehensive cross-organ monitoring and emphasizes the need for expanded LS screening, including MMR genetic testing.