Review
Evolving techniques for gene fusion detection in soft tissue tumours
Fredrik Mertens,
Johnbosco Tayebwa,
Corresponding Author
Fredrik Mertens
Department of Clinical Genetics, University and Regional Laboratories, Lund University, Lund, Sweden
Address for correspondence: F Mertens, Department of Clinical Genetics, University and Regional Laboratories, Lund University, SE-221 85 Lund, Sweden. e-mail: [email protected]Search for more papers by this authorJohnbosco Tayebwa
Department of Clinical Genetics, University and Regional Laboratories, Lund University, Lund, Sweden
Search for more papers by this authorFredrik Mertens,
Johnbosco Tayebwa,
Corresponding Author
Fredrik Mertens
Department of Clinical Genetics, University and Regional Laboratories, Lund University, Lund, Sweden
Address for correspondence: F Mertens, Department of Clinical Genetics, University and Regional Laboratories, Lund University, SE-221 85 Lund, Sweden. e-mail: [email protected]Search for more papers by this authorJohnbosco Tayebwa
Department of Clinical Genetics, University and Regional Laboratories, Lund University, Lund, Sweden
Search for more papers by this authorAbstract
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.
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