Refractory alveolar rhabdomyosarcoma in an 11-year-old male

Rhabdomyosarcoma (RMS) is a mesenchymal malignancy phenocopying muscle and is among the leading causes of death from childhood cancer. Metastatic alveolar rhabdomyosarcoma is the most aggressive subtype with an 8% 5-yr disease-free survival rate when a chromosomal fusion is present and a 29% 5-yr di...

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Bibliographic Details
Published in:Cold Spring Harbor molecular case studies 2021-02, Vol.7 (1), p.a005983
Main Authors: Ricker, Cora A, Woods, Andrew D, Simonson, William, Lathara, Melvin, Srinivasa, Ganapati, Rudzinski, Erin R, Mansoor, Atiya, Irwin, Robert G, Keller, Charles, Berlow, Noah E
Format: Article
Language:English
Subjects:
Alveoli
Children
End of life
Malignancy
Mesenchyme
Metastases
Muscles
Rhabdomyosarcoma
Survival
Target recognition
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Summary:Rhabdomyosarcoma (RMS) is a mesenchymal malignancy phenocopying muscle and is among the leading causes of death from childhood cancer. Metastatic alveolar rhabdomyosarcoma is the most aggressive subtype with an 8% 5-yr disease-free survival rate when a chromosomal fusion is present and a 29% 5-yr disease-free survival rate when negative for a fusion event. The underlying biology of -fusion-negative alveolar rhabdomyosarcoma remains largely unexplored and is exceedingly rare in Li-Fraumeni syndrome patients. Here, we present the case of an 11-yr-old male with fusion-negative alveolar rhabdomyosarcoma studied at end of life with a comprehensive functional genomics characterization, resulting in identification of potential therapeutic targets for broader investigation.
ISSN:2373-2865
2373-2873
DOI:10.1101/mcs.a005983