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

In English

Författare

Summary, in English

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.

Publiceringsår

2006

Språk

Engelska

Sidor

283-288

Publikation/Tidskrift/Serie

Cytogenetic and Genome Research

Volym

115

Issue

3-4

Dokumenttyp

Artikel i tidskrift

Förlag

Karger

Ämne

  • Medical Genetics

Status

Published

ISBN/ISSN/Övrigt

  • ISSN: 1424-859X