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

Kaur, S. ; Vauhkonen, H. ; Boehling, T. ; Mertens, Fredrik LU ; Mandahl, Nils LU and Knuutila, S. (2006) In Cytogenetic and Genome Research 115(3-4). p.283-288
Abstract
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... (More)
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. (Less)
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author
; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Cytogenetic and Genome Research
volume
115
issue
3-4
pages
283 - 288
publisher
Karger
external identifiers
  • wos:000242391500012
  • scopus:33751552697
ISSN
1424-859X
DOI
10.1159/000095925
language
English
LU publication?
yes
id
b866f786-f103-4307-b2f0-683062ea866c (old id 685648)
date added to LUP
2016-04-01 11:36:36
date last changed
2020-02-26 02:55:05
@article{b866f786-f103-4307-b2f0-683062ea866c,
  abstract     = {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.},
  author       = {Kaur, S. and Vauhkonen, H. and Boehling, T. and Mertens, Fredrik and Mandahl, Nils and Knuutila, S.},
  issn         = {1424-859X},
  language     = {eng},
  number       = {3-4},
  pages        = {283--288},
  publisher    = {Karger},
  series       = {Cytogenetic and Genome Research},
  title        = {Gene copy number changes in dermatofibrosarcoma protuberans - a fine-resolution study using array comparative genomic hybridization},
  url          = {http://dx.doi.org/10.1159/000095925},
  doi          = {10.1159/000095925},
  volume       = {115},
  year         = {2006},
}