Cancers, Vol. 15, Pages 1644: Biological Role and Clinical Implications of MYOD1L122R Mutation in Rhabdomyosarcoma

Cancers, Vol. 15, Pages 1644: Biological Role and Clinical Implications of MYOD1L122R Mutation in Rhabdomyosarcoma Cancers doi: 10.3390/cancers15061644 Authors: Daniela Di Di Carlo Julia Chisholm Anna Kelsey Rita Alaggio Gianni Bisogno Veronique Minard-Colin Meriel Jenney Raquel Dávila Fajardo Johannes H. M. Merks Janet M. Shipley Joanna L. Selfe Major progress in recent decades has furthered our clinical and biological understanding of rhabdomyosarcoma (RMS) with improved stratification for treatment based on risk factors. Clinical risk factors alone were used to stratify patients for treatment in the European Pediatric Soft Tissue Sarcoma Study Group (EpSSG) RMS 2005 protocol. The current EpSSG overarching study for children and adults with frontline and relapsed rhabdomyosarcoma (FaR-RMS NCT04625907) includes FOXO1 fusion gene status in place of histology as a risk factor. Additional molecular features of significance have recently been recognized, including the MYOD1L122R gene mutation. Here, we review biological information showing that MYOD1L122R blocks cell differentiation and has a MYC-like activity that enhances tumorigenesis and is linked to an aggressive cellular phenotype. MYOD1L122R mutations can be found together with mutations in other genes, such as PIK3CA, as potentially cooperating events. Using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, ten publications in the clinical literature invo...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Review Source Type: research