ArticleDiscover oncology2025
Renal cell carcinoma unclassified with medullary phenotype: a case report and review of the literature.
Article in Discover oncology, 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
Renal medullary carcinoma (RMC) is a highly aggressive tumor characterized by SMARCB1/INI1 deficiency, predominantly affecting young blacks with sickle cell disease. Recently, the provisional diagnostic entity "renal cell carcinoma unclassified with medullary phenotype" (RCCU-MP) has been proposed to describe tumors exhibiting RMC-like histopathological features and loss of SMARCB1/INI1 expression, but occurring in patients without sickle cell disease. Here, we report a 55-year-old Chinese male patient without sickle cell disease who presented with an 8-cm left renal mass. Histopathological examination revealed a high-grade renal cell carcinoma with complete loss of SMARCB1/INI1 expression by immunohistochemistry. Based on these findings, a diagnosis of RCCU-MP was made. To the best of our knowledge, this represents the first internationally reported RCCU-MP case of Chinese origin, with only one prior case documented in domestic Chinese literature. Given the exceptional rarity of RCCU-MP and its overlapping characteristics with RMC, we systematically analyze the clinical features, pathological morphology, and immunohistochemistry of RCCU-MP separately. Additionally, we explore potential molecular pathogenesis and emerging therapeutic strategies based on recent evidence.
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