Rearrangement of the COL12A1 and COL4A5 genes in subungual exostosis: molecular cytogenetic delineation of the tumor-specific translocation t(X;6)(q13-14;q22)
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/414842
- author
- Storlazzi, CT ; Wozniak, A ; Panagopoulos, Ioannis LU ; Sciot, R ; Mandahl, Nils LU ; Mertens, Fredrik LU and Debiec-Rychter, M
- organization
- publishing date
- 2006
- 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 Inc.
- 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
- 2022-02-18 05:30:17
@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}},
keywords = {{FISH; subungual exostosis; translocation; COL12A1; COL4A5}},
language = {{eng}},
number = {{8}},
pages = {{1972--1976}},
publisher = {{John Wiley & Sons Inc.}},
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}},
}