A case of dermatofibrosarcoma protuberans with a ring chromosome 5 and a rearranged chromosome 22 containing amplified COL1A1 and PDGFB sequences
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.
Department/s
Publishing year
1998
Language
English
Pages
129-134
Publication/Series
Cancer Letters
Volume
133
Issue
2
Document type
Journal article
Publisher
Elsevier
Topic
- Cancer and Oncology
Keywords
- Dermatofibrosarcoma protuberans
- Ring chromosome
- Marker chromosome
- COL1A1
- PDGFB
- Amplification
Status
Published
ISBN/ISSN/Other
- ISSN: 1872-7980