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A case of dermatofibrosarcoma protuberans with a ring chromosome 5 and a rearranged chromosome 22 containing amplified COL1A1 and PDGFB sequences

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Author

Summary, in English

Dermatofibrosarcoma protuberans (DFSP) is a cutaneous tumour of borderline malignancy, the cytogenetic features of which include the translocation t(17;22)(q22;q13) or, more commonly, supernumerary ring chromosomes containing material from 17q22 and 22q13. These rearrangements result in the COL1A1/PDGFB fusion gene. Here, we describe a case of DFSP displaying a ring chromosome 5 together with a large marker chromosome composed of chromosome 22 alphoid DNA, material from distal 12q and amplified COL1A1 and PDGFB sequences. This is the first case of DFSP with multiple copies of COL1A1 and PDGFB not confined to ring chromosomes, showing that DFSP is similar to other borderline malignant mesenchymal tumours, where rings and giant markers are alternative vehicles for amplified material.

Publishing year

1998-11-27

Language

English

Pages

34-129

Publication/Series

Cancer Letters

Volume

133

Issue

2

Document type

Journal article

Publisher

Elsevier

Topic

  • Medical Genetics

Keywords

  • Adolescent
  • Chromosomes, Human, Pair 22
  • Chromosomes, Human, Pair 5
  • Collagen
  • Dermatofibrosarcoma
  • Gene Amplification
  • Gene Rearrangement
  • Humans
  • Male
  • Platelet-Derived Growth Factor
  • Ring Chromosomes
  • Skin Neoplasms
  • Case Reports
  • Journal Article
  • Research Support, Non-U.S. Gov't

Status

Published

ISBN/ISSN/Other

  • ISSN: 0304-3835