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Cánceres de riñón de células claras definidos molecularmente: enfoques prácticos para patólogos quirúrgicos

Mahmut Akgul^1,2, Rose S George³, Stephanie E Siegmund¹

¹Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.

|December 12, 2025

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.

Palabras clave:

ALK ELOC/TCEB1 FH SDH SMARCB1/INI1 TFE3 TFEB FISH RCC por translocación de la familia MiT NGS algoritmo diagnóstico inmunohistoquímica RCC metabólico

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