VCL-ALK renal cell carcinoma in children with sickle-cell trait: the eighth sickle-cell nephropathy?
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.
Departments of *Pathology ∥Urology ¶Oncology, The Johns Hopkins Medical Institutions, Baltimore, MD †Department of Pathology, University of South Carolina School of Medicine-Greenville, Greenville, SC ‡Department of Pathology, Brigham and Women's Hospital, Boston, MA §Departments of Pathology/Microbiology, Pediatrics and Orthopedic Surgery, University of Nebraska Medical Center, Omaha, NE.
Nathaniel E
NE
Smith
Andrea T
AT
Deyrup
Adrian
A
Mariño-Enriquez
Jonathan A
JA
Fletcher
Julia A
JA
Bridge
Peter B
PB
Illei
George J
GJ
Netto
Pedram
P
Argani
D000077548:Anaplastic Lymphoma Kinase; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics*; D002292:Carcinoma, Renal Cell / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002648:Child; D050939:Gene Fusion; D015321:Gene Rearrangement; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D007680:Kidney Neoplasms / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008297:Male; D009392:Nephrectomy; D010641:Phenotype; D020794:Receptor Protein-Tyrosine Kinases / Q000032:analysis / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012805:Sickle Cell Trait / Q000150:complications / Q000235:genetics*; D016596:Vinculin / Q000235:genetics*
D014408:Biomarkers, Tumor; C488955:VCL protein, human; D016596:Vinculin; C000626173:ALK protein, human; D000077548:Anaplastic Lymphoma Kinase; D020794:Receptor Protein-Tyrosine Kinases