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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, D LU ; Höglund, M LU ; O'Brien, K P; Dumanski, J P; Mertens, F LU and Mandahl, N LU (1998) In Cancer Letters 133(2). p.34-129
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... (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.

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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
in
Cancer Letters
volume
133
issue
2
pages
6 pages
publisher
Elsevier
external identifiers
  • Scopus:0344097469
ISSN
0304-3835
DOI
10.1016/S0304-3835(98)00223-7
language
English
LU publication?
yes
id
fb06af8d-f730-49f9-8c1a-ac13da6ab9cf
date added to LUP
2016-10-05 09:53:25
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2016-10-13 05:14:40
@misc{fb06af8d-f730-49f9-8c1a-ac13da6ab9cf,
  abstract     = {<p>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.</p>},
  author       = {Gisselsson, D and Höglund, M and O'Brien, K P and Dumanski, J P and Mertens, F and Mandahl, N},
  issn         = {0304-3835},
  keyword      = {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},
  language     = {eng},
  month        = {11},
  number       = {2},
  pages        = {34--129},
  publisher    = {ARRAY(0xb5a5ec8)},
  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},
}