t(X;17)(p11.2;q25)

Preferred Label : t(X;17)(p11.2;q25);

NCIt synonyms : t X 17 p11 q25; t(X;17)(p11;q25);

NCIt related terms : t(X;17)(p11;q25) (Alveolar soft part sarcoma);

NCIt definition : A chromosomal translocation involving the TFE3 gene on chromosome Xp11.2 and the ASPSCR1 gene on chromosome 17q25.;

NCI Metathesaurus CUI : CL358505;

Details

Origin ID

C36392;

UMLS CUI

C1515813;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Sarcoma Baseline Form [NCIt concept]
- CPTAC Terminology [NCIt concept]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 17 [NCIt concept]
- Human Chromosome X [NCIt concept]
may_be_cytogenetic_abnormality_of_disease
- Adult Alveolar Soft Part Sarcoma [NCIt concept]
- Advanced Alveolar Soft Part Sarcoma [NCIt concept]
- Bladder Alveolar Soft Part Sarcoma [NCIt concept]
- Cervical Alveolar Soft Part Sarcoma [NCIt concept]
- Childhood Alveolar Soft Part Sarcoma [NCIt concept]
- Localized Alveolar Soft Part Sarcoma [NCIt concept]
- Locally Advanced Alveolar Soft Part Sarcoma [NCIt concept]
- Lung Alveolar Soft Part Sarcoma [NCIt concept]
- Metastatic Alveolar Soft Part Sarcoma [NCIt concept]
- Orbital Alveolar Soft Part Sarcoma [NCIt concept]
- Recurrent Alveolar Soft Part Sarcoma [NCIt concept]
- Refractory Alveolar Soft Part Sarcoma [NCIt concept]
- Tongue Alveolar Soft Part Sarcoma' [NCIt concept]
- Unresectable Alveolar Soft Part Sarcoma [NCIt concept]
- Vulvar Alveolar Soft Part Sarcoma [NCIt concept]
molecular_abnormality_involves_gene
- ASPSCR1 Gene [NCIt concept]
- ASPSCR1/TFE3 Fusion Gene [NCIt concept]
- TFE3 Gene [NCIt concept]
- TFE3/ASPSCR1 Fusion Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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