Congenital/Infantile Spindle Cell Rhabdomyosarcoma with VGLL2/NCOA2/CITED2 Rearrangements

Preferred Label : Congenital/Infantile Spindle Cell Rhabdomyosarcoma with VGLL2/NCOA2/CITED2 Rearrangements;

NCIt definition : Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1647898;

Details

Origin ID

C178232;

UMLS CUI

C5554884;

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
- Storiform Growth Pattern [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [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]
- Mixed Cellular Population [NCIt concept]
- Sclerotic Pattern [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]
- Primitive Malignant Skeletal Spindle Cell [NCIt concept]
disease_has_finding
- 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_may_have_cytogenetic_abnormality
- CITED2 Gene Rearrangement [NCIt concept]
- NCOA2 Gene Rearrangement [NCIt concept]
- VGLL2 Gene Rearrangement [NCIt concept]

Keyword's position in hierarchy(ies) :

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