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Rearrangement of the COL12A1 and COL4A5 genes in subungual exostosis: molecular cytogenetic delineation of the tumor-specific translocation t(X;6)(q13-14;q22)

Storlazzi, CT ; Wozniak, A ; Panagopoulos, Ioannis LU ; Sciot, R ; Mandahl, Nils LU ; Mertens, Fredrik LU and Debiec-Rychter, M (2006) In International Journal of Cancer 118(8). p.1972-1976
Abstract
Subungual exostosis is a benign bone- and cartilage-producing tumor occurring in the hands and feet of children and young adults. The recent identification of a recurrent chromosomal translocation t(X;6)(q24-q26;q15-21) in short-term-cultured tumor cells strongly suggests that subungual exostosis is a neoplastic lesion caused by rearrangement of genes in the two breakpoints. To identify the genes that are critical for neoplastic transformation, we have studied five subungual exostoses by interphase or metaphase FISH. The results of these analyses demonstrated a clustering of the breakpoints to the regions harboring the collagen genes COL12A1 and COL4A5 in chromosome bands 6q13-14 and Xq22, respectively. Furthermore, in all but one case,... (More)
Subungual exostosis is a benign bone- and cartilage-producing tumor occurring in the hands and feet of children and young adults. The recent identification of a recurrent chromosomal translocation t(X;6)(q24-q26;q15-21) in short-term-cultured tumor cells strongly suggests that subungual exostosis is a neoplastic lesion caused by rearrangement of genes in the two breakpoints. To identify the genes that are critical for neoplastic transformation, we have studied five subungual exostoses by interphase or metaphase FISH. The results of these analyses demonstrated a clustering of the breakpoints to the regions harboring the collagen genes COL12A1 and COL4A5 in chromosome bands 6q13-14 and Xq22, respectively. Furthermore, in all but one case, these two genes were shown to colocalize on the derivative chromosomes X and 6, strongly suggesting that at least one of them is consistently involved in the formation of a chimeric fusion gene or in the exchange of regulatory sequences. Because collagen molecules are important for tissue remodeling during physiologic growth and differentiation, both COL12A1 and COL4A5 constitute good candidate target genes in the pathogenesis of subungual exostosis. Further investigations on the transcript level are required to elucidate the functional outcome of the t(X;6) translocation in subungual exostoses. (c) 2005 Wiley-Liss, Inc. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
FISH, subungual exostosis, translocation, COL12A1, COL4A5
in
International Journal of Cancer
volume
118
issue
8
pages
1972 - 1976
publisher
John Wiley & Sons
external identifiers
  • wos:000236397200017
  • pmid:16284948
  • scopus:33645242232
ISSN
0020-7136
DOI
10.1002/ijc.21586
language
English
LU publication?
yes
id
69e317c7-17c0-42c9-8ab2-d797eb0bc1cd (old id 414842)
date added to LUP
2016-04-01 11:48:00
date last changed
2019-08-14 01:39:49
@article{69e317c7-17c0-42c9-8ab2-d797eb0bc1cd,
  abstract     = {Subungual exostosis is a benign bone- and cartilage-producing tumor occurring in the hands and feet of children and young adults. The recent identification of a recurrent chromosomal translocation t(X;6)(q24-q26;q15-21) in short-term-cultured tumor cells strongly suggests that subungual exostosis is a neoplastic lesion caused by rearrangement of genes in the two breakpoints. To identify the genes that are critical for neoplastic transformation, we have studied five subungual exostoses by interphase or metaphase FISH. The results of these analyses demonstrated a clustering of the breakpoints to the regions harboring the collagen genes COL12A1 and COL4A5 in chromosome bands 6q13-14 and Xq22, respectively. Furthermore, in all but one case, these two genes were shown to colocalize on the derivative chromosomes X and 6, strongly suggesting that at least one of them is consistently involved in the formation of a chimeric fusion gene or in the exchange of regulatory sequences. Because collagen molecules are important for tissue remodeling during physiologic growth and differentiation, both COL12A1 and COL4A5 constitute good candidate target genes in the pathogenesis of subungual exostosis. Further investigations on the transcript level are required to elucidate the functional outcome of the t(X;6) translocation in subungual exostoses. (c) 2005 Wiley-Liss, Inc.},
  author       = {Storlazzi, CT and Wozniak, A and Panagopoulos, Ioannis and Sciot, R and Mandahl, Nils and Mertens, Fredrik and Debiec-Rychter, M},
  issn         = {0020-7136},
  language     = {eng},
  number       = {8},
  pages        = {1972--1976},
  publisher    = {John Wiley & Sons},
  series       = {International Journal of Cancer},
  title        = {Rearrangement of the COL12A1 and COL4A5 genes in subungual exostosis: molecular cytogenetic delineation of the tumor-specific translocation t(X;6)(q13-14;q22)},
  url          = {http://dx.doi.org/10.1002/ijc.21586},
  doi          = {10.1002/ijc.21586},
  volume       = {118},
  year         = {2006},
}