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Related Experiment Videos

Gene expression patterns and gene copy number changes in dermatofibrosarcoma protuberans.

Sabine C Linn1, Rob B West, Jonathan R Pollack

  • 1Departments of Pathology, Genetics, and Biochemistry, and Howard Hughes Medical Institute, Stanford University Medical Center, Stanford, California 94305, USA.

The American Journal of Pathology
|November 25, 2003
PubMed
Summary

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Dermatofibrosarcoma protuberans (DFSP) exhibits a distinct gene expression profile and characteristic DNA amplifications on chromosomes 17q and 22q. These genetic alterations correlate with elevated gene expression, offering insights into DFSP development.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Dermatofibrosarcoma protuberans (DFSP) is an aggressive skin cancer.
  • DFSP is characterized by a specific chromosomal translocation, t(17:22), involving COL1A1 and PDGFbeta genes.

Purpose of the Study:

  • To determine the characteristic gene expression profile of DFSP.
  • To analyze DNA copy number alterations in DFSP using array-based comparative genomic hybridization (array CGH).

Main Methods:

  • Analysis of global gene expression using DNA microarrays on nine DFSP samples.
  • Array CGH performed on four DFSP samples (both fresh-frozen and formalin-fixed, paraffin-embedded).
  • Comparison of DFSP gene expression with 27 other soft tissue tumors.

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Main Results:

  • DFSP samples showed a distinct gene expression profile, differentiating them from other soft tissue tumors.
  • Characteristic amplifications of chromosome regions 17q and 22q, encompassing COL1A1 and PDGF beta genes, were identified in DFSP.
  • Genes within the amplified regions, including PDGF beta and PDGFRB, showed significantly elevated expression.

Conclusions:

  • DFSP possesses a unique gene expression signature.
  • Array CGH is a viable method for analyzing both fresh and preserved tumor samples.
  • The identified 17q/22q amplification is a key genetic event in DFSP, linked to increased expression of relevant genes.