Refractory alveolar rhabdomyosarcoma in an 11-year-old male

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.

GA4GH: International policies and standards for data sharing across genomic research and healthcare

“… 54 – 56 Characterizing a cancer by sequencing a patient’s tumor genome alongside their germline genome has resulted in profound insights into molecular mechanisms of malignant transformation and discovery of potential therapeutic targets. 57 , 58 Tumor/normal sequencing has demonstrated applications in disease monitoring 59 as well as diagnosis, 60 prognosis, 61 and therapeutic response prediction, 62 both at initial presentation 63 and disease recurrence. 64 …”