Defining an embryonal rhabdomyosarcoma endotype

Cold Spring Harb Mol Case Stud. 2020 Apr 1;6(2):a005066. doi: 10.1101/mcs.a005066. Print 2020 Apr.


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.

Keywords: embryonal rhabdomyosarcoma.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antineoplastic Agents / pharmacology
  • Antineoplastic Agents / therapeutic use
  • Biomarkers, Tumor
  • Biopsy
  • Cell Line, Tumor
  • Cell Survival / drug effects
  • Cell Survival / genetics
  • Computational Biology / methods
  • Exome Sequencing
  • Genetic Association Studies* / methods
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Genomics / methods
  • Humans
  • Immunohistochemistry
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Phenotype
  • Prognosis
  • Rhabdomyosarcoma, Embryonal / diagnosis*
  • Rhabdomyosarcoma, Embryonal / drug therapy
  • Rhabdomyosarcoma, Embryonal / genetics*
  • Symptom Assessment
  • Ultrasonography


  • Antineoplastic Agents
  • Biomarkers, Tumor