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Gene copy number changes in dermatofibrosarcoma protuberans - a fine-resolution study using array comparative genomic

S Kaur1, H Vauhkonen, T Böhling

  • 1Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

Cytogenetic and Genome Research
|November 25, 2006
PubMed
Summary
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Dermatofibrosarcoma protuberans (DFSP) is a rare skin tumor. Array-comparative genomic hybridization (aCGH) revealed genetic gains in the COL1A1 and PDGFB genes, crucial for DFSP diagnosis.

Area of Science:

  • Oncology
  • Genetics
  • Dermatology

Background:

  • Dermatofibrosarcoma protuberans (DFSP) is a rare, slow-growing, low-grade dermal tumor.
  • Characteristic chromosomal rearrangements in DFSP involve chromosomes 17 and 22, forming a supernumerary ring.
  • The t(17;22) translocation creates a COL1A1-PDGFB gene fusion, a diagnostic marker for DFSP.

Purpose of the Study:

  • To investigate chromosomal copy number alterations in DFSP using array-CGH (aCGH).
  • To identify common regions of genomic gain or loss in DFSP tumors.

Main Methods:

  • Array-comparative genomic hybridization (aCGH) was performed on ten DFSP tumor samples.
  • Analysis focused on identifying gains and losses in specific chromosomal regions, particularly those involving chromosomes 17 and 22.

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Main Results:

  • The COL1A1 gene region (17q) was gained in 71% (5/7) of analyzed samples.
  • The PDGFB gene region (22q) was gained in 43% (3/7) of analyzed samples.
  • Seventeen minimal common regions of gain and one region of loss were detected across the samples.

Conclusions:

  • Array-CGH analysis confirms the frequent involvement of 17q and 22q gains in DFSP.
  • These findings further elucidate the genomic landscape of DFSP and support the diagnostic significance of the COL1A1-PDGFB fusion.
  • aCGH can identify additional genomic alterations beyond the characteristic translocation in DFSP.