Molecular diagnostics in the management of rhabdomyosarcoma.

Abstract:

INTRODUCTION:A classification of rhabdomyosarcoma (RMS) with prognostic relevance has primarily relied on clinical features and histologic classification as either embryonal or alveolar RMS. The PAX3-FOXO1 and PAX7-FOXO1 gene fusions occur in 80% of cases with the alveolar subtype and are more predictive of outcome than histologic classification. Identifying additional molecular hallmarks that further subclassify RMS is an active area of research. Areas Covered: The authors review the current state of the PAX3-FOXO1 and PAX7-FOXO1 fusions as prognostic biomarkers. Emerging biomarkers, including mRNA expression profiling, MYOD1 mutations, RAS pathway mutations and gene fusions involving NCOA2 or VGLL2 are also reviewed. Expert commentary: Strategies for modifying RMS risk stratification based on molecular biomarkers are emerging with the potential to transform the clinical management of RMS, ultimately improving patient outcomes by tailoring therapy to predicted patient risk and identifying targets for novel therapies.

journal_name

Expert Rev Mol Diagn

authors

Arnold MA,Barr FG

doi

10.1080/14737159.2017.1275965

subject

Has Abstract

pub_date

2017-02-01 00:00:00

pages

189-194

issue

2

eissn

1473-7159

issn

1744-8352

journal_volume

17

pub_type

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