ArticleIJU case reports2025
Postmortem genetic diagnosis of hereditary leiomyomatosis and renal cell carcinoma syndrome: Identification through normal kidney tissues after surgical removal.
Article in IJU case reports, 2025. 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
Introduction: Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant disorder caused by germline mutations in the Case presentation: A 33-year-old man presented with asymptomatic gross hematuria and was diagnosed with a right renal tumor, cT3aN1M0. He underwent open radical nephrectomy, and pathological examination revealed papillary renal cell carcinoma. Despite aggressive treatment, the disease progressed rapidly, and discussions regarding genetic testing could not take place during his lifetime, although circulating-tumor DNA showed mutation of Conclusion: This highlights the utility of postmortem genetic testing of surgical specimens to diagnose hereditary leiomyomatosis and renal cell cancer and provide genetic counseling to families, despite limitations during the patient's life.
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