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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

Gisselsson Nord, David LU ; Höglund, Mattias LU ; O'Brien, K P; Dumanski, J P; Mertens, Fredrik LU and Mandahl, Nils LU (1998) In Cancer Letters 133(2). p.129-134
Abstract
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... (More)
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. (Less)
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author
organization
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type
Contribution to journal
publication status
published
subject
keywords
Dermatofibrosarcoma protuberans, Ring chromosome, Marker chromosome, COL1A1, PDGFB, Amplification
in
Cancer Letters
volume
133
issue
2
pages
129 - 134
publisher
Elsevier
external identifiers
  • pmid:10072161
  • scopus:0344097469
ISSN
1872-7980
DOI
10.1016/S0304-3835(98)00223-7
language
English
LU publication?
yes
id
d109c4e8-112c-4869-a058-d5a28cfd47f8 (old id 1112882)
date added to LUP
2008-07-11 13:51:16
date last changed
2017-07-30 04:34:47
@article{d109c4e8-112c-4869-a058-d5a28cfd47f8,
  abstract     = {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.},
  author       = {Gisselsson Nord, David and Höglund, Mattias and O'Brien, K P and Dumanski, J P and Mertens, Fredrik and Mandahl, Nils},
  issn         = {1872-7980},
  keyword      = {Dermatofibrosarcoma protuberans,Ring chromosome,Marker chromosome,COL1A1,PDGFB,Amplification},
  language     = {eng},
  number       = {2},
  pages        = {129--134},
  publisher    = {Elsevier},
  series       = {Cancer Letters},
  title        = {A case of dermatofibrosarcoma protuberans with a ring chromosome 5 and a rearranged chromosome 22 containing amplified COL1A1 and PDGFB sequences},
  url          = {http://dx.doi.org/10.1016/S0304-3835(98)00223-7},
  volume       = {133},
  year         = {1998},
}