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

S. Kaur, H. Vauhkonen, T. Boehling, Fredrik Mertens, Nils Mandahl, S. Knuutila

Research output: Contribution to journalArticlepeer-review

Abstract

Dermatofibrosarcoma protuberans (DFSP) is a rare, slow-growing, low-grade dermal tumor. Cytogenetic and FISH studies have revealed that the chromosomal rearrangements characteristic of DFSP tumors involve both translocations and the formation of a supernumerary ring derived from chromosomes 17 and 22. The t(17;22) (q22;q13.1) translocation generates a gene fusion between COL1A1 and PDGFB, which serves as a diagnostic marker of DFSP. In the present study we performed array-CGH (aCGH) analysis on ten DFSP tumors. The COL1A1 region at 17q was gained in 71% (5/7) of the samples and the PDGFB region at 22q was gained in 43% (3/7) of the individual samples. In addition to the 17q and 22q gains, altogether 17 minimal common regions of gain and one region of loss were detected.
Original languageEnglish
Pages (from-to)283-288
JournalCytogenetic and Genome Research
Volume115
Issue number3-4
DOIs
Publication statusPublished - 2006

Subject classification (UKÄ)

  • Medical Genetics

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