VCL-ALK renal cell carcinoma in children with sickle-cell trait: the eighth sickle-cell nephropathy?

Smith, Nathaniel E; Deyrup, Andrea T; Mariño-Enriquez, Adrian; Fletcher, Jonathan A; Bridge, Julia A; Illei, Peter B; Netto, George J; Argani, Pedram · Am J Surg Pathol · 2014

case_report · Level V

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Abstract

We report the third case of a renal cell carcinoma bearing a fusion of the vinculin (VCL) and anaplastic lymphoma kinase (ALK) genes. Like the 2 other reported cases, this neoplasm occurred in a young patient (6 y old) with sickle-cell trait and demonstrated distinctive morphologic features including medullary epicenter, discohesive polygonal or spindle-shaped cells with prominent cytoplasmic vacuoles, and prominent lymphocytic infiltrate. The neoplastic cells demonstrated focal membranous labeling for ALK protein by immunohistochemistry, ALK gene rearrangement by fluorescence in situ hybridization, and a specific VCL-ALK gene fusion by reverse transcriptase polymerase chain reaction. VCL-ALK renal cell carcinoma may represent the eighth sickle-cell nephropathy.

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