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Peer-reviewedCC BYIJU case reports

Durable Complete Response to Pembrolizumab for Postoperative Nodal Recurrence of Lynch Syndrome–Associated Upper Tract Urothelial Carcinoma: A Case Report

  • Kaya Atagi1
  • Shinkuro Yamamoto1
  • Nobutaka Shimizu2
  • Mitsuko Iguchi3
  • Ryu Shigehisa1
  • Tomoya Nao1
  • Tsutomu Shimamoto1
  • Hideo Fukuhara1
  • Satoshi Fukata1
  • Keiji Inoue1
  1. 1Department of Urology, Kochi Medical School Kochi University Nankoku Japan
  2. 2Pelvic Floor Center, Kochi Medical School Kochi University Nankoku Japan
  3. 3Department of Diagnostic Pathology, Kochi Medical School Kochi University Nankoku Japan
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Abstract

Introduction: Germline mutations in mismatch repair genes cause Lynch syndrome and are associated with upper tract urothelial carcinoma (UTUC). Tumors with deficient mismatch repair (dMMR) or microsatellite instability–high (MSI‐H) may respond favorably to immune checkpoint inhibitors.

Case Presentation: A 54‐year‐old woman with Lynch syndrome and a germline MSH2 mutation developed right renal pelvic carcinoma. The tumor was diagnosed as a pT3 high‐grade urothelial carcinoma, and the patient underwent laparoscopic nephroureterectomy. She was subsequently administered adjuvant gemcitabine and carboplatin due to a contraindication for cisplatin. Due to nodal recurrence, pembrolizumab was initiated at 200 mg every 3 weeks, achieving a complete radiological and metabolic response after five cycles. The course was complicated by immune‐related adrenal insufficiency, which was managed with corticosteroid replacement therapy.

Conclusion: Pembrolizumab may achieve a durable complete response in Lynch syndrome–associated UTUC. MSI screening should be considered in UTUC to guide decision‐making.

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Cite

BibTeXRIS
BibTeX
@article{atagi2026durable,
  title = {{Durable Complete Response to Pembrolizumab for Postoperative Nodal Recurrence of Lynch Syndrome–Associated Upper Tract Urothelial Carcinoma: A Case Report}},
  author = {Kaya Atagi and Shinkuro Yamamoto and Nobutaka Shimizu and Mitsuko Iguchi and Ryu Shigehisa and Tomoya Nao and Tsutomu Shimamoto and Hideo Fukuhara and Satoshi Fukata and Keiji Inoue},
  journal = {IJU case reports},
  year = {2026},
  month = nov,
  doi = {10.1002/iju5.70293},
  url = {https://europepmc.org/article/PMC/PMC13727505},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Durable Complete Response to Pembrolizumab for Postoperative Nodal Recurrence of Lynch Syndrome–Associated Upper Tract Urothelial Carcinoma: A Case Report
AU  - Kaya Atagi
AU  - Shinkuro Yamamoto
AU  - Nobutaka Shimizu
AU  - Mitsuko Iguchi
AU  - Ryu Shigehisa
AU  - Tomoya Nao
AU  - Tsutomu Shimamoto
AU  - Hideo Fukuhara
AU  - Satoshi Fukata
AU  - Keiji Inoue
PY  - 2026
DA  - 2026/11/01
JO  - IJU case reports
DO  - 10.1002/iju5.70293
UR  - https://europepmc.org/article/PMC/PMC13727505
AB  - Introduction: Germline mutations in mismatch repair genes cause Lynch syndrome and are associated with upper tract urothelial carcinoma (UTUC). Tumors with deficient mismatch repair (dMMR) or microsatellite instability–high (MSI‐H) may respond favorably to immune checkpoint inhibitors.  Case Presentation: A 54‐year‐old woman with Lynch syndrome and a germline MSH2 mutation developed right renal pelvic carcinoma. The tumor was diagnosed as a pT3 high‐grade urothelial carcinoma, and the patient underwent laparoscopic nephroureterectomy. She was subsequently administered adjuvant gemcitabine and carboplatin due to a contraindication for cisplatin. Due to nodal recurrence, pembrolizumab was initiated at 200 mg every 3 weeks, achieving a complete radiological and metabolic response after five cycles. The course was complicated by immune‐related adrenal insufficiency, which was managed with corticosteroid replacement therapy.  Conclusion: Pembrolizumab may achieve a durable complete response in Lynch syndrome–associated UTUC. MSI screening should be considered in UTUC to guide decision‐making.
SN  - 2577-171X
ER  -