Comprehensive Genomic Analysis of Rhabdomyosarcoma Reveals a Landscape of Alterations Affecting a Common Genetic Axis in Fusion-Positive and Fusion-Negative Tumors
Broad Institute · Seattle Children's Hospital · +11 more institutions
Abstract
UNLABELLED: Despite gains in survival, outcomes for patients with metastatic or recurrent rhabdomyosarcoma remain dismal. In a collaboration between the National Cancer Institute, Children's Oncology Group, and Broad Institute, we performed whole-genome, whole-exome, and transcriptome sequencing to characterize the landscape of somatic alterations in 147 tumor/normal pairs. Two genotypes are evident in rhabdomyosarcoma tumors: those characterized by the PAX3 or PAX7 fusion and those that lack these fusions but harbor mutations in key signaling pathways. The overall burden of somatic mutations in rhabdomyosarcoma is relatively low, especially in tumors that harbor a PAX3/7 gene fusion. In addition to previously…
Citation impact
- FWCI
- 40.96
- Percentile
- 100%
- References
- 75
Authors
27- JFJack F. Shern
Broad Institute, Seattle Children's Hospital, Hospital Sant Joan de Déu Barcelona, Harvard University, University of Washington, Fred Hutch Cancer Center, Southwestern Medical Center, Dana-Farber Cancer Institute, Cancer Research Center, National Cancer Institute, Center for Cancer Research, University of Nebraska Medical Center, The University of Texas Southwestern Medical Center
- LCLi Chen
Broad Institute, Seattle Children's Hospital, Hospital Sant Joan de Déu Barcelona, Harvard University, University of Washington, Fred Hutch Cancer Center, Southwestern Medical Center, Dana-Farber Cancer Institute, Cancer Research Center, National Cancer Institute, Center for Cancer Research, University of Nebraska Medical Center, The University of Texas Southwestern Medical Center
- JCJuliann Chmielecki
Broad Institute, Hospital Sant Joan de Déu Barcelona, Harvard University, Fred Hutch Cancer Center, Southwestern Medical Center, Dana-Farber Cancer Institute, National Cancer Institute, Center for Cancer Research, University of Nebraska Medical Center, The University of Texas Southwestern Medical Center
- JSJun S. Wei
Broad Institute, Seattle Children's Hospital, Hospital Sant Joan de Déu Barcelona, Harvard University, University of Washington, Fred Hutch Cancer Center, Southwestern Medical Center, Dana-Farber Cancer Institute, Cancer Research Center, National Cancer Institute, Center for Cancer Research, University of Nebraska Medical Center, The University of Texas Southwestern Medical Center
- RPRajesh Patidar
Broad Institute, Seattle Children's Hospital, Hospital Sant Joan de Déu Barcelona, Harvard University, University of Washington, Fred Hutch Cancer Center, Southwestern Medical Center, Dana-Farber Cancer Institute, Cancer Research Center, National Cancer Institute, Center for Cancer Research, University of Nebraska Medical Center, The University of Texas Southwestern Medical Center
Topics & keywords
- Rhabdomyosarcoma
- Fusion
- Fusion gene
- Biology
- Computational biology
- Bioinformatics
- Cancer research
- Genetics
- Good health and well-being