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Molecular testing of sarcomas

Amary, F; Pillay, N; Flanagan, AM; (2017) Molecular testing of sarcomas. Diagnostic Histopathology , 23 (10) pp. 431-441. 10.1016/j.mpdhp.2017.08.003. Green open access

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Abstract

Connective tissue tumours, particularly sarcomas, are rare and present as a variety of histological subtypes with diverse management protocols and have varied prognoses. Many of these tumours have specific cancer driver genetic alterations that can be leveraged for diagnostic purposes. For practical purposes, these tumours can be categorised as harbouring genetic alterations including chromosomal rearrangements, gene amplifications, single nucleotide substitutions, and complex genetic abnormalities. Herein we discuss different tumour subtypes with their associated genetic abnormalities that may be used in clinical practice, when interpreted in the context of the relevant clinical, histological and radiological information. The benefits of large scale sequencing studies of sarcoma are leading to new insights into sarcoma development and are providing a biological rationale for personalised medicine. Genomic profiling and other “omic” studies will likely play a fundamental part in the development of new diagnostic and predictive biomarkers in the near future.

Type: Article
Title: Molecular testing of sarcomas
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.mpdhp.2017.08.003
Publisher version: http://doi.org/10.1016/j.mpdhp.2017.08.003
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Amplification; connective tissue; FISH; RT-PCR; sarcoma; translocations
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Pathology
URI: https://discovery.ucl.ac.uk/id/eprint/10058049
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