Fusion-Positive Rhabdomyosarcoma

Preferred Label : Fusion-Positive Rhabdomyosarcoma;

NCIt definition : A rhabdomyosarcoma characterized by the presence of chromosomal translocation t(1;13)(p36;q14) that results in PAX7-FOXO1 gene fusion; or translocation t(2;13)(q35;q14) that results in PAX3-FOXO1 gene fusion.;

Neoplastic status : Malignant;

Details

Origin ID

C123735;

UMLS CUI

C4054911;

Disease excludes normal cell origin
- Epithelial Cell [NCIt concept]
- Neuron, Neuroepithelial Cell, and Supporting Cell of the Nervous System [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- NCIt Neoplasm Core Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Indolent Clinical Course [NCIt concept]
- Intermediate Filaments Present [NCIt concept]
- Intracytoplasmic Eosinophilic Inclusion [NCIt concept]
disease_excludes_normal_tissue_origin
- Epithelial Tissue [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Malignant Rhabdomyoblast [NCIt concept]
- Malignant Skeletal Muscle Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Connective and Soft Tissue Cell [NCIt concept]
- Neoplastic Muscle Cell [NCIt concept]
- Neoplastic Skeletal Muscle Cell [NCIt concept]
disease_has_finding
- High Grade Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Rapidly Enlarging Mass [NCIt concept]
disease_has_normal_cell_origin
- Connective and Soft Tissue Cell [NCIt concept]
- Muscle Cell [NCIt concept]
- Skeletal Muscle Cell [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Muscle Tissue [NCIt concept]
- Skeletal Muscle Tissue [NCIt concept]
disease_mapped_to_gene
- PAX3/FOXO1 Fusion Gene [NCIt concept]
- PAX7/FOXO1 Fusion Gene [NCIt concept]
disease_may_have_cytogenetic_abnormality
- t(1;13)(p36;q14) [NCIt concept]
- t(2;13)(q35;q14) [NCIt concept]
disease_may_have_molecular_abnormality
- PAX3-FOXO1 Fusion Protein Expression [NCIt concept]
- PAX7-FOXO1 Fusion Protein Expression [NCIt concept]
pathogenesis_of_disease_involves_gene
- PAX3/FOXO1 Fusion Gene [NCIt concept]
- PAX7/FOXO1 Fusion Gene [NCIt concept]

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