What question did this study set out to answer?

To explore non-surgical management options for high-grade upper tract urothelial carcinoma in Lynch syndrome patients.

March 30, 2026Open Access

Organ-Preserving Management of Primary Lynch Syndrome–Associated High-Grade Upper Tract Urothelial Carcinoma Using Gemcitabine–Cisplatin and Pembrolizumab: First Reported Case Worldwide

Key Points

To explore non-surgical management options for high-grade upper tract urothelial carcinoma in Lynch syndrome patients.
Case study of a 48-year-old male with MSH2-associated Lynch syndrome and high-grade UTUC.
Patient received six cycles of gemcitabine–cisplatin followed by two years of pembrolizumab.
Assessment of treatment response using PET-CT imaging.
Achieved complete metabolic response on PET-CT after systemic therapy.
Patient remains disease-free at one year post-treatment.

Abstract

Abstract Lynch syndrome (LS), caused by germline mismatch-repair mutations, increases the risk of upper tract urothelial carcinoma (UTUC), for which radical nephroureterectomy is the standard treatment. Non-surgical curative management has not been described previously. We report a 48-year-old man with MSH2-associated LS who presented with a 3.5 cm distal ureteric high-grade UTUC. To preserve renal function, multidisciplinary consensus favoured systemic therapy over surgery. He received gemcitabine–cisplatin for six cycles followed by pembrolizumab for two years, achieving complete metabolic response on PET-CT. He remains disease-free at one year. This case demonstrates successful organ-preserving treatment of hereditary UTUC.

Organ-Preserving Management of Primary Lynch Syndrome–Associated High-Grade Upper Tract Urothelial Carcinoma Using Gemcitabine–Cisplatin and Pembrolizumab: First Reported Case Worldwide

Key Points

Abstract

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