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Literature DB >> 24698962

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

Nathaniel E Smith¹, Andrea T Deyrup, Adrian Mariño-Enriquez, Jonathan A Fletcher, Julia A Bridge, Peter B Illei, George J Netto, Pedram Argani.

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.

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 2014 PMID： 24698962 PMCID： PMC4352307 DOI： 10.1097/PAS.0000000000000179

Source DB: PubMed Journal: Am J Surg Pathol ISSN： 0147-5185 Impact factor: 6.394

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