RGD Reference Report - Dermatofibrosarcoma protuberans of the vulva and groin: detection of COL1A1-PDGFB fusion transcripts by RT-PCR. - Rat Genome Database

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Dermatofibrosarcoma protuberans of the vulva and groin: detection of COL1A1-PDGFB fusion transcripts by RT-PCR.

Authors: Gokden, N  Dehner, LP  Zhu, X  Pfeifer, JD 
Citation: Gokden N, etal., J Cutan Pathol. 2003 Mar;30(3):190-5.
RGD ID: 2292195
Pubmed: PMID:12641779   (View Abstract at PubMed)

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is an uncommon infiltrative tumor of the dermis with characteristic cytogenetic features, specifically the translocation t(17;22)(q22;q13) which often manifests as a supernumerary ring chromosome r(17;22). The translocation results in the fusion of two genes, collagen type I alpha 1(COL1A1) and platelet-derived growth factor B-chain (PDGFB). The trunk and extremities are the anatomic sites of predilection for DFSP, whereas the vulva and groin are quite uncommon sites of involvement. METHODS: This investigation evaluated seven DFSPs (four vulvar and three groin) for the presence of COL1A1-PDGFB fusion transcripts by reverse transcriptase-polymerase chain reaction (RT-PCR), using archival formalin-fixed, paraffin-embedded tissue. RESULTS: Six of seven cases (three vulvar, three groin) contained a COL1A1-PDGFB fusion transcript. Sequence analysis of the PCR products revealed that the break-point of the COL1A1 gene was located after exon 40 in two patients, after exon 42 in one patient, after exon 44 in one patient, and after exon 47 in two patients; the break-point in the PDGFB gene was before exon 2 in all cases. No fusion transcript could be amplified in one case. CONCLUSIONS: As in DFSP at other sites, COL1A1- PDGFB chimeric fusion transcripts are present in vulvar and groin DFSP. The transcripts can be detected in formalin-fixed, paraffin-embedded tumor tissues, and have the same general pattern of exon boundaries as in DFSP at other sites.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
COL1A1Humandermatofibrosarcoma protuberans  IAGP DNA:gene fusion:exonRGD 
Col1a1Ratdermatofibrosarcoma protuberans  ISOCOL1A1 (Homo sapiens)DNA:gene fusion:exonRGD 
Col1a1Mousedermatofibrosarcoma protuberans  ISOCOL1A1 (Homo sapiens)DNA:gene fusion:exonRGD 
PDGFBHumandermatofibrosarcoma protuberans  IAGP DNA:gene fusion:exonRGD 
PdgfbRatdermatofibrosarcoma protuberans  ISOPDGFB (Homo sapiens)DNA:gene fusion:exonRGD 
PdgfbMousedermatofibrosarcoma protuberans  ISOPDGFB (Homo sapiens)DNA:gene fusion:exonRGD 


Genes (Rattus norvegicus)
Col1a1  (collagen type I alpha 1 chain) Pdgfb  (platelet derived growth factor subunit B)

Genes (Mus musculus)
Col1a1  (collagen, type I, alpha 1) Pdgfb  (platelet derived growth factor, B polypeptide)

Genes (Homo sapiens)
COL1A1  (collagen type I alpha 1 chain) PDGFB  (platelet derived growth factor subunit B)