MYOD1-Mutant Spindle Cell/Sclerosing Rhabdomyosarcoma

Preferred Label : MYOD1-Mutant Spindle Cell/Sclerosing Rhabdomyosarcoma;

NCIt definition : Spindle cell/sclerosing rhabdomyosarcoma characterized by the presence of MYOD1 p.Leu122Arg substitution mutation. This subtype includes most spindle cell/sclerosing rhabdomyosarcomas in adolescents and young adults, as well as some cases in older adults. It follows an aggressive clinical course.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1647893;

Details

Origin ID

C178235;

UMLS CUI

C5554887;

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]
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]
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
- Aggressive Clinical Course [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Rapidly Enlarging Mass [NCIt concept]
disease_has_molecular_abnormality
- MYOD1 NP_002469.2:p.L122R [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]

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