Defining an embryonal rhabdomyosarcoma endotype.
Antineoplastic Agents
/ pharmacology
Biomarkers, Tumor
Biopsy
Cell Line, Tumor
Cell Survival
/ drug effects
Computational Biology
/ methods
Genetic Association Studies
/ methods
Genetic Predisposition to Disease
Genetic Testing
Genomics
/ methods
Humans
Immunohistochemistry
Infant
Magnetic Resonance Imaging
Male
Phenotype
Prognosis
Rhabdomyosarcoma, Embryonal
/ diagnosis
Symptom Assessment
Ultrasonography
Exome Sequencing
embryonal rhabdomyosarcoma
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
04 2020
04 2020
Historique:
received:
10
12
2019
accepted:
13
02
2020
entrez:
3
4
2020
pubmed:
3
4
2020
medline:
28
5
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 32238403
pii: mcs.a005066
doi: 10.1101/mcs.a005066
pmc: PMC7133750
pii:
doi:
Substances chimiques
Antineoplastic Agents
0
Biomarkers, Tumor
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2020 Ricker et al.; Published by Cold Spring Harbor Laboratory Press.
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