EWSR1/FLI1 Fusion Gene

Preferred Label : EWSR1/FLI1 Fusion Gene;

NCIt synonyms : EWS/FLI1 Fusion Gene; FLI1/EWS Fusion Gene; EWSR1-FLI1 Fusion Gene; EWS-FLI1 Fusion Gene; EWSR1::FLI1 Fusion Gene;

NCIt related terms : EWSR1-FLI1;

NCIt definition : A fusion gene that results from a chromosomal translocation t(11;22)(q24;q12) which fuses the first seven or ten exons of the EWSR1 gene with exon 5, 6 or 8 of the FLI1 gene. This rearrangement is associated with Ewing tumor/peripheral primitive neuroectodermal tumor.;

NCIt note : The EWSR1/FLI1 fusion gene is found in 85% of cases of Ewing tumors. In the most common fusion (type 1), exon 7 of the EWSR1 gene is fused in frame to exon 6 of the FLI1 gene; in type 2, EWSR1 exon 7 is fused in frame to FLI1 exon 5. (Atlas of Genetics and Cytogenetics in Oncology and Haematology);

Details

Origin ID

C99202;

UMLS CUI

C1860425;

Automatic exact mappings (from CISMeF team)
- Ews rna-binding protein 1 [OMIM gene]
- Fli1 protooncogene, ets transcription factor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- EWS Authorized Value Terminology [NCIt concept]
- EWS Molecular Analysis Table [NCIt concept]
gene_encodes_gene_product
- EWSR1/FLI1 Fusion Protein [NCIt concept]
- EWSR1/FLI1 Fusion Protein Type 1 [NCIt concept]
- EWSR1/FLI1 Fusion Protein Type 2 [NCIt concept]
gene_has_abnormality
- FET Family Gene Translocation [NCIt concept]
- t(11;22)(q24;q12) [NCIt concept]
gene_involved_in_molecular_abnormality
- EWSR1-FLI1 Fusion Protein Expression [NCIt concept]
- t(11;22)(q24;q12) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
gene_mapped_to_disease
- Askin Tumor [NCIt concept]
- Atypical Ewing Sarcoma [NCIt concept]
- Central Nervous System Ewing Sarcoma [NCIt concept]
- Central Nervous System Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Childhood Ewing Sarcoma [NCIt concept]
- Childhood Kidney Ewing Sarcoma [NCIt concept]
- Ewing Sarcoma [NCIt concept]
- Ewing Sarcoma of Bone [NCIt concept]
- Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor of Bone [NCIt concept]
- Extraskeletal Ewing Sarcoma [NCIt concept]
- Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Head and Neck Ewing Sarcoma [NCIt concept]
- Kidney Ewing Sarcoma [NCIt concept]
- Localized Askin Tumor [NCIt concept]
- Localized Bone Ewing Sarcoma [NCIt concept]
- Localized Ewing Sarcoma [NCIt concept]
- Localized Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Localized Extraskeletal Ewing Sarcoma [NCIt concept]
- Localized Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Localized Peripheral Primitive Neuroectodermal Tumor of Bone [NCIt concept]
- Locally Advanced Ewing Sarcoma [NCIt concept]
- Metastatic Bone Ewing Sarcoma [NCIt concept]
- Metastatic Ewing Sarcoma [NCIt concept]
- Metastatic Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Metastatic Extraskeletal Ewing Sarcoma [NCIt concept]
- Metastatic Peripheral Primitive Neuroectodermal Tumor of Bone [NCIt concept]
- Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Peripheral Primitive Neuroectodermal Tumor of Bone [NCIt concept]
- Peripheral Primitive Neuroectodermal Tumor of Soft Tissues [NCIt concept]
- Peripheral Primitive Neuroectodermal Tumor of the Kidney [NCIt concept]
- Recurrent Askin Tumor [NCIt concept]
- Recurrent Bone Ewing Sarcoma [NCIt concept]
- Recurrent Ewing Sarcoma [NCIt concept]
- Recurrent Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Recurrent Extraskeletal Ewing Sarcoma [NCIt concept]
- Recurrent Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Recurrent Peripheral Primitive Neuroectodermal Tumor of Bone [NCIt concept]
- Refractory Ewing Sarcoma [NCIt concept]
- Refractory Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Refractory Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Sinonasal Ewing Sarcoma [NCIt concept]
- Skin Ewing Sarcoma [NCIt concept]
- Unresectable Ewing Sarcoma [NCIt concept]
- Vulvar Ewing Sarcoma [NCIt concept]
related_to_genetic_biomarker
- EWSR1 Gene [NCIt concept]
- FLI1 Gene [NCIt concept]

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