t(X;2)(q11-12;p23)

Preferred Label : t(X;2)(q11-12;p23);

NCIt synonyms : t X 2 q11-12 p23;

NCIt definition : A chromosomal translocation involving breakpoints within the q11-q12 region on the long arm of the X chromosome and the p23 band on the short arm of chromosome 2. This rearrangement is associated with MSN-ALK fusion gene expression and anaplastic large cell lymphoma.;

PubMed : 11310834;

Détails

Origin ID

C36591;

UMLS CUI

C1515817;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 2 [NCIt concept]
- Human Chromosome X [NCIt concept]
may_be_cytogenetic_abnormality_of_disease
- Childhood Anaplastic Large Cell Lymphoma, ALK-Positive [NCIt concept]
- Primary Central Nervous System Anaplastic Large Cell Lymphoma, ALK-Positive [NCIt concept]
- Recurrent Systemic Anaplastic Large Cell Lymphoma, ALK-Positive [NCIt concept]
- Refractory Systemic Anaplastic Large Cell Lymphoma, ALK-Positive [NCIt concept]
- Systemic Anaplastic Large Cell Lymphoma, ALK-Positive [NCIt concept]
molecular_abnormality_involves_gene
- ALK Gene [NCIt concept]
- MSN Gene [NCIt concept]
- MSN/ALK Fusion Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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