Abstract
Alveolar rhabdomyosarcoma (ARMS) is a malignant tumor with skeletal muscle cell differentiation. It is also known as monomorphous round cell rhabdomyosarcoma.
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Notes
- 1.
PAS: periodic acid Schiff.
- 2.
EMA: epithelial membrane antigen.
- 3.
PAX3 and PAX7 encode members of the paired box transcription factor family, which are expressed in skeletal muscle progenitors, whereas FOXO1 encodes a widely expressed member of the forkhead transcription factor family. These fusion genes encode chimeric transcription factors containing an amino-terminal PAX3 or PAX7 region with an intact DNA-binding domain and a carboxy-terminal FOXO1 region containing an intact transcriptional activation domain. In contrast to wild-type PAX3 and PAX7 proteins, the PAX3-FOXO1 and PAX7-FOXO1 fusion proteins have enhanced transcriptional activity. PAX3-FOXO1 binds to DNA regions containing E-box DNA-binding motifs as well as PAX3-binding sites along with the E-box-specific transcription factor N-Myc (encoded by MYCN) and myogenic basic helix-loop-helix transcription factors MYOD1 and myogenin (encoded by MYOD1 and MYOG, respectively) and generates super-enhancers near a subset of target genes, including ALK (encoding anaplastic lymphoma kinase), FGFR4 (encoding fibroblast growth factor receptor 4), as well as MYCN, MYOD1, and MYOG. In addition, PAX3-FOXO1 also interacts directly or indirectly with chromatin-related proteins, including chromatin remodeling protein bromodomain-containing protein 4 (BRD4).
- 4.
NMYC: this gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. The encoded protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastoma.
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Mocellin, S. (2021). Alveolar Rhabdomyosarcoma. In: Soft Tissue Tumors . Springer, Cham. https://doi.org/10.1007/978-3-030-58710-9_13
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DOI: https://doi.org/10.1007/978-3-030-58710-9_13
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