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Defining an embryonal rhabdomyosarcoma endotype.
- Source :
-
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2020 Apr 01; Vol. 6 (2). Date of Electronic Publication: 2020 Apr 01 (Print Publication: 2020). - Publication Year :
- 2020
-
Abstract
- Rhabdomyosarcoma (RMS) is the most common childhood soft-tissue sarcoma. The largest subtype of RMS is embryonal rhabdomyosarcoma (ERMS) and accounts for 53% of all RMS. ERMS typically occurs in the head and neck region, bladder, or reproductive organs and portends a promising prognosis when localized; however, when metastatic the 5-yr overall survival rate is ∼43%. The genomic landscape of ERMS demonstrates a range of putative driver mutations, and thus the recognition of the pathological mechanisms driving tumor maintenance should be critical for identifying effective targeted treatments at the level of the individual patients. Here, we report genomic, phenotypic, and bioinformatic analyses for a case of a 3-yr-old male who presented with bladder ERMS. Additionally, we use an unsupervised agglomerative clustering analysis of RNA and whole-exome sequencing data across ERMS and undifferentiated pleomorphic sarcoma (UPS) tumor samples to determine several major endotypes inferring potential targeted treatments for a spectrum of pediatric ERMS patient cases.<br /> (© 2020 Ricker et al.; Published by Cold Spring Harbor Laboratory Press.)
- Subjects :
- Antineoplastic Agents pharmacology
Antineoplastic Agents therapeutic use
Biomarkers, Tumor
Biopsy
Cell Line, Tumor
Cell Survival drug effects
Cell Survival genetics
Computational Biology methods
Genetic Testing
Genomics methods
Humans
Immunohistochemistry
Infant
Magnetic Resonance Imaging
Male
Phenotype
Prognosis
Rhabdomyosarcoma, Embryonal drug therapy
Symptom Assessment
Ultrasonography
Exome Sequencing
Genetic Association Studies methods
Genetic Predisposition to Disease
Rhabdomyosarcoma, Embryonal diagnosis
Rhabdomyosarcoma, Embryonal genetics
Subjects
Details
- Language :
- English
- ISSN :
- 2373-2873
- Volume :
- 6
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Cold Spring Harbor molecular case studies
- Publication Type :
- Academic Journal
- Accession number :
- 32238403
- Full Text :
- https://doi.org/10.1101/mcs.a005066