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dermatofibrosarcoma protuberans
Tumor of intermediate malignancy.
Pathology:
1) sarcoma of the dermis
2) generally benign, but metastizes in 2-5% of cases
Genetics:
- reciprocal translocations t(17;22)(q22;q13) fuse PDGF-B (c-sis proto-oncogene) with COL1A1 & delete exon 1 of PDGF-B
- releasing growth factor from normal regulation.
Laboratory:
1) RT-PCR
2) fluorescence in-situ hybridization (FISH)
Interactions
disease interactions
General
sarcoma
skin neoplasm
Properties
GENETIC-ABNORMALITY: chromosomal translocation
LOCUS: human chromosome-17 Q22
human chromosome-22 Q13
ABERRANT-GENE: COL1A1 gene
sis proto-oncogene
SPLICED-GENES: COL1A1 gene
sis proto-oncogene
References
- Simon et al. Nature Genet 15:95-8, 1997
- Szollozi Z et al,
Transformed dermatofibrosarcoma protuberans: Real time
polymerase charin reaction detection of COL1A1-PDGFB fusion
transcripts in sarcomatous areas.
J Clin Pathol 2007, 60:190
PMID: 16731589
- Maire G et al,
A clinical, histological and molecular study of 9 cases of
congenital dermatofibrosarcoma protuberans.
Arch Dermatol 2007, 143:203
PMID: 17310000
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