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Molecular diagnostics in the management of rhabdomyosarcoma.
- Source :
-
Expert review of molecular diagnostics [Expert Rev Mol Diagn] 2017 Feb; Vol. 17 (2), pp. 189-194. Date of Electronic Publication: 2017 Jan 06. - Publication Year :
- 2017
-
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.
- Subjects :
- Humans
Muscle Proteins genetics
MyoD Protein genetics
Nuclear Receptor Coactivator 1 genetics
Oncogene Protein p21(ras) genetics
Oncogene Proteins, Fusion genetics
Paired Box Transcription Factors genetics
Transcription Factors genetics
Biomarkers, Tumor genetics
Molecular Diagnostic Techniques methods
Rhabdomyosarcoma diagnosis
Rhabdomyosarcoma genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1744-8352
- Volume :
- 17
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Expert review of molecular diagnostics
- Publication Type :
- Academic Journal
- Accession number :
- 28058850
- Full Text :
- https://doi.org/10.1080/14737159.2017.1275965