ArticleFrontiers in oncology2026
Kidney-sparing immunotherapy for lynch syndrome-associated upper tract urothelial carcinoma following colon cancer: a case report.
Article in Frontiers in oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Lynch syndrome (LS) is a hereditary cancer predisposition syndrome associated with multiple malignancies, including colorectal cancer and upper tract urothelial carcinoma (UTUC). We report a 61-year-old woman who initially presented with ascending colon adenocarcinoma and underwent laparoscopic right hemicolectomy. Immunohistochemistry showed loss of MLH1 and PMS2 expression, suggesting deficient mismatch repair. Ten months later, she developed a right renal pelvic mass, which was confirmed by ureteroscopic biopsy as invasive high-grade urothelial carcinoma with squamous differentiation rather than metastatic colon cancer. The urothelial tumor also showed an abnormal MLH1/PMS2 immunophenotype. Subsequent molecular evaluation included plasma cell-free DNA profiling for somatic genomic characterization and peripheral-blood germline analysis for hereditary cancer assessment. Germline testing identified a heterozygous pathogenic variant in NM_000249.4(
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