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<p>Renal cell carcinoma associated with anaplastic lymphoma kinase rearrangement (<i>ALK</i>-RCC) is a rare subtype within the category of molecularly defined renal cell carcinomas. Due to its low incidence and highly heterogeneous clinicopathological features, <i>ALK</i>-RCC poses a significant diagnostic challenge. The implementation of advanced molecular techniques has facilitated the identification of various fusion partners, which may influence clinical behavior and guide targeted therapies. We report a case of <i>ALK</i>-RCC harboring a novel fusion partner, <i>RAB1A::ALK</i>. This report describes the clinicopathological and molecular features of the tumor, with a particular focus on the characterization of the <i>RAB1A</i> gene and its documented impact on carcinogenesis and prognosis across several solid malignancies. Our findings expand the molecular spectrum of <i>ALK</i>-RCC and emphasize the role of comprehensive molecular profiling in uropathology.</p>

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Renal cell carcinoma with a novel RAB1A::ALK fusion: expanding the molecular spectrum of ALK-rearranged RCC

  • 期刊论文

  • 发表日期：

    2026年5月7日

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  • Claudia Andrea Gómez González,
  • Banu Sarsik Kumbaraci,
  • Fuat Kizilay,
  • Serdar Kalemci,
  • Sercan On,
  • Sait Sen

摘要

Renal cell carcinoma associated with anaplastic lymphoma kinase rearrangement (ALK-RCC) is a rare subtype within the category of molecularly defined renal cell carcinomas. Due to its low incidence and highly heterogeneous clinicopathological features, ALK-RCC poses a significant diagnostic challenge. The implementation of advanced molecular techniques has facilitated the identification of various fusion partners, which may influence clinical behavior and guide targeted therapies. We report a case of ALK-RCC harboring a novel fusion partner, RAB1A::ALK. This report describes the clinicopathological and molecular features of the tumor, with a particular focus on the characterization of the RAB1A gene and its documented impact on carcinogenesis and prognosis across several solid malignancies. Our findings expand the molecular spectrum of ALK-RCC and emphasize the role of comprehensive molecular profiling in uropathology.