The American journal of surgical pathology · 2014
VCL-ALK renal cell carcinoma in children with sickle-cell trait: the eighth sickle-cell nephropathy?
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Smith Nathaniel E, Deyrup Andrea T, Mariño-Enriquez Adrian, Fletcher Jonathan A, Bridge Julia A, Illei Peter B, Netto George J, Argani Pedram
Аннотация
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.
Предметные рубрики MeSH
Anaplastic Lymphoma KinaseBiomarkers, TumorCarcinoma, Renal CellChildGene FusionGene RearrangementGenetic Predisposition to DiseaseHumansImmunohistochemistryIn Situ Hybridization, FluorescenceKidney NeoplasmsMaleNephrectomyPhenotypeReceptor Protein-Tyrosine KinasesReverse Transcriptase Polymerase Chain ReactionSickle Cell TraitVinculin