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Article in English | MEDLINE | ID: mdl-33436392

ABSTRACT

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 PAX-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.


Subject(s)
Rhabdomyosarcoma, Alveolar/drug therapy , Rhabdomyosarcoma, Alveolar/genetics , Rhabdomyosarcoma, Alveolar/pathology , Antineoplastic Agents/therapeutic use , Child , Drug Screening Assays, Antitumor , Germ Cells , Humans , Male , Rhabdomyosarcoma, Alveolar/diagnosis , Tumor Suppressor Protein p53/genetics , Exome Sequencing
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