Molecularly defined renal cell carcinomas: practical approaches for surgical pathologists

Abstract

Molecularly defined renal carcinomas (MDRC) represent a heterogeneous group of tumours characterized by disease‐defining genetic alterations, and the documentation of these mutations is necessary for their diagnosis. This group includes TFE3 ‐rearranged renal cell carcinoma (RCC), TFEB ‐rearranged RCC, TFEB ‐amplified RCC, fumarate hydratase ( FH )‐deficient RCC, succinate dehydrogenase ( SDH )‐deficient RCC, SMARCB1 ‐deficient renal medullary carcinoma (RMC), ALK ‐rearranged RCC, and ELOC ‐mutated RCC. Although they account for only about 5% of RCC, they are clinically significant due to distinctive biology, frequent diagnostic pitfalls, and therapeutic implications. Many pathology laboratories lack immediate access to fluorescence in situ hybridization (FISH) or next‐generation sequencing (NGS) to confirm MDRC; this review emphasizes morphologic recognition and immunohistochemical surrogates, followed by rational triage for ancillary testing when available.

Affiliated Institutions

• Brigham and Women's Hospital US
• Cleveland Clinic US
• Istanbul Memorial Hospital TR
• Brown University US
• Stanford University US
• Memorial Sloan Kettering Cancer Center US
• Istanbul Arel University TR
• Atlas Üniversitesi

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