Clinical management and therapeutic development for the rare disease rhabdomyosarcoma

Rhabdomyosarcoma (RMS) is a rare disease that arises from skeletal muscle mainly affects children and adolescents. Patients with RMS have diverse symptoms and prognosis based on tumor sizes, tumor anatomical locations, histological subtypes of the tumors and genetic testing of paired-box-forkhead box O1 (PAX-FOXO1) fusion gene. The 4 subtypes of RMS include embryonal RMS (eRMS), alveolar RMS (aRMS), spindle cell/sclerosing RMS (scRMS) and pleomorphic RMS (pRMS). Treatment for RMS patients remains challenging due to its heterogeneous nature. Thus, a combinatory approach is likely to warrant better management of RMS. Given that PAX-FOXO1 fusion gene is the most common biomarker for RMS, though this fusion gene only accounts for 16-20% of RMS patients. Targeted therapy that tailors treatment plans to the individual patient may provide additional benefits for RMS patients. This review describes the frequent genetic mutations observed in RMS patients and drug development based on these mutations shall provide direction to develop targeted therapy leading to effective personalized treatment for RMS patients.