Rhabdomyosarcoma with TFCP2 Rearrangement

Preferred Label : Rhabdomyosarcoma with TFCP2 Rearrangement;

NCIt synonyms : TFCP2-RMS; Epithelioid/Spindle Cell Rhabdomyosarcoma; Epithelioid/Spindle Cell Rhabdomyosarcoma with TFCP2 Rearrangement;

NCIt definition : An aggressive, high-grade rhabdomyosarcoma characterized by TFCP2 rearrangement that results either in TFCP2-FUS or TFCP2-EWSR1 fusion gene formation. It affects young adults and arises from bone and less frequently soft tissue. It predominantly affects the craniofacial bones. Histologically, it usually shows a biphasic pattern with spindle and epithelioid cell areas. It is associated with poor prognosis.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1921248;

Details

Origin ID

C202263;

UMLS CUI

C5907813;

Disease excludes normal cell origin
- Epithelial Cell [NCIt concept]
- Neuron, Neuroepithelial Cell, and Supporting Cell of the Nervous System [NCIt concept]
Disease may have findings
- Biphasic Pattern [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Has cytogenetic abnormalities
- TFCP2 Gene Rearrangement [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
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
- Aggressive Clinical Course [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
- EWSR1/TFCP2 Fusion Gene [NCIt concept]
- FUS/TFCP2 Fusion Gene [NCIt concept]
disease_may_have_abnormal_cell
- Malignant Epithelioid Cell [NCIt concept]
- Malignant Spindle Cell [NCIt concept]
pathogenesis_of_disease_involves_gene
- EWSR1/TFCP2 Fusion Gene [NCIt concept]
- FUS/TFCP2 Fusion Gene [NCIt concept]

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