COL1A1-PDGFB fusion in a pediatric Bednar tumor with 2 copies of a der(22)t(17;22).
We present a 10-year-old girl with a pure Bednar tumor (pigmented dermatofibrosarcoma protuberans) of the right shoulder. Cytogenetic analysis demonstrated 47 chromosomes with 2 copies of a derivative chromosome 22, der(22)t(17;22)(q22;q13). Fluorescence in situ hybridization (FISH) analysis demonstrated the COL1A1-PDGFB fusion on both der(22) chromosomes. By RT-PCR and sequencing, we observed a fusion of the COL1A1 exon 41 with PDGFB exon 2. This pure pediatric Bednar tumor in a child, like childhood dermatofibrosarcoma protuberans, had a linear structural abnormality rather than a ring chromosome that is more commonly encountered in adult Bednar and dermatofibrosarcoma protuberans tumors. The underlying molecular abnormality in this pediatric Bednar tumor is the same as in dermatofibrosarcoma protuberans.
Craver
Randall
R
Department of Pathology, Louisiana State University Health Science Center, New Orleans, LA, USA. rcrave@lsuhsc.edu
Dewenter
Tracy
T
Ebran
Nathalie
N
Pedeutour
Florence
F
D001483:Base Sequence; D002648:Child; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D018223:Dermatofibrosarcoma / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
C120892:COLIA1-PDGFB fusion protein, human; D015514:Oncogene Proteins, Fusion