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Evolving techniques for gene fusion detection in soft tissue tumours.

Mertens, Fredrik LU and Tayebwa, Johnbosco LU (2014) In Histopathology 64(1). p.151-162
Abstract
Chromosomal rearrangements resulting in the fusion of coding parts from two genes or in the exchange of regulatory sequences are present in approximately 20% of all human neoplasms. More than 1000 such gene fusions have now been described, with close to 100 of them in soft tissue tumours. Although little is still known about the functional outcome of many of these gene fusions, it is well established that most of them have a major impact on tumorigenesis. Furthermore, the strong association between type of gene fusion and morphological subtype makes them highly useful diagnostic markers. Until recently, the vast majority of gene fusions were identified through molecular cytogenetic characterization of rearrangements detected at chromosome... (More)
Chromosomal rearrangements resulting in the fusion of coding parts from two genes or in the exchange of regulatory sequences are present in approximately 20% of all human neoplasms. More than 1000 such gene fusions have now been described, with close to 100 of them in soft tissue tumours. Although little is still known about the functional outcome of many of these gene fusions, it is well established that most of them have a major impact on tumorigenesis. Furthermore, the strong association between type of gene fusion and morphological subtype makes them highly useful diagnostic markers. Until recently, the vast majority of gene fusions were identified through molecular cytogenetic characterization of rearrangements detected at chromosome banding analysis, followed by use of the reverse transcriptase-polymerase chain reaction (RT-PCR) and Sanger sequencing. With the advent of next-generation sequencing (NGS) technologies, notably of whole transcriptomes or all poly-A(+) mRNA molecules, the possibility of detecting new gene fusions has increased dramatically. Already, a large number of novel gene fusions have been identified through NGS approaches and it can be predicted that these technologies soon will become standard diagnostic clinical tools. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Histopathology
volume
64
issue
1
pages
151 - 162
publisher
Wiley-Blackwell
external identifiers
  • wos:000328219100012
  • pmid:24320890
  • scopus:84889635690
ISSN
0309-0167
DOI
10.1111/his.12272
language
English
LU publication?
yes
id
4d4e75e3-8176-4113-9e28-bcaff0f2b424 (old id 4224994)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/24320890?dopt=Abstract
date added to LUP
2014-01-03 15:19:56
date last changed
2017-10-22 03:17:46
@article{4d4e75e3-8176-4113-9e28-bcaff0f2b424,
  abstract     = {Chromosomal rearrangements resulting in the fusion of coding parts from two genes or in the exchange of regulatory sequences are present in approximately 20% of all human neoplasms. More than 1000 such gene fusions have now been described, with close to 100 of them in soft tissue tumours. Although little is still known about the functional outcome of many of these gene fusions, it is well established that most of them have a major impact on tumorigenesis. Furthermore, the strong association between type of gene fusion and morphological subtype makes them highly useful diagnostic markers. Until recently, the vast majority of gene fusions were identified through molecular cytogenetic characterization of rearrangements detected at chromosome banding analysis, followed by use of the reverse transcriptase-polymerase chain reaction (RT-PCR) and Sanger sequencing. With the advent of next-generation sequencing (NGS) technologies, notably of whole transcriptomes or all poly-A(+) mRNA molecules, the possibility of detecting new gene fusions has increased dramatically. Already, a large number of novel gene fusions have been identified through NGS approaches and it can be predicted that these technologies soon will become standard diagnostic clinical tools.},
  author       = {Mertens, Fredrik and Tayebwa, Johnbosco},
  issn         = {0309-0167},
  language     = {eng},
  number       = {1},
  pages        = {151--162},
  publisher    = {Wiley-Blackwell},
  series       = {Histopathology},
  title        = {Evolving techniques for gene fusion detection in soft tissue tumours.},
  url          = {http://dx.doi.org/10.1111/his.12272},
  volume       = {64},
  year         = {2014},
}