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Molecular testing of sarcomas

Authors :
Fernanda Amary
Nischalan Pillay
Adrienne M. Flanagan
Source :
Diagnostic Histopathology. 23:431-441
Publication Year :
2017
Publisher :
Elsevier BV, 2017.

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.

Details

ISSN :
17562317
Volume :
23
Database :
OpenAIRE
Journal :
Diagnostic Histopathology
Accession number :
edsair.doi...........fb1cd476d39b72b367896666c23e3f79
Full Text :
https://doi.org/10.1016/j.mpdhp.2017.08.003