Evolving techniques for gene fusion detection in soft tissue tumours
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Date
2014
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Histopathology
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.
Description
Keywords
Gene fusion, Next-generation sequencing, Sarcoma, Soft tissue
Citation
Mertens, F., & Tayebwa, J. (2014). Evolving techniques for gene fusion detection in soft tissue tumours. Histopathology, 64(1), 151-162. DOI: 10.1111/his.12272