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VCL-ALK Renal Cell Carcinoma in Children With Sickle-cell Trait

Year: 2014
Type: article
Study design: Case Report
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.
DOI: 10.1097/pas.0000000000000179
Authors: Nathaniel E. Smith, Andrea T. Deyrup, Adrian Mariño-Enriquez, Jonathan A. Fletcher, Julia A. Bridge, Peter B. Illei, George J. Netto, Pedram Argani
Institutions: Brigham and Women's Hospital, Johns Hopkins University, University of South Carolina, Johns Hopkins Medicine, Johns Hopkins Hospital, University of Nebraska Medical Center, Harvard University
Language: English
Field: Medicine
Open Access status: green
OpenAlex ID: W2088011744
FWCI: 8.091
Cites: 36
Cited by: 102
Related to: 10