FLT3 Internal Tandem Duplication

Preferred Label : FLT3 Internal Tandem Duplication;

NCIt synonyms : FLT3/ITD Mutation; FLT3-ITD Mutation; Activating FLT3-ITD Gene Mutation; Activating FLT3-ITD Mutation; FLT3-ITD; FLT3-ITD Activating Mutation; FLT3 ITD;

NCIt definition : A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.;

Alternative definition : NICHD: A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene, and which results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myeloid leukemia.;

PubMed : 16757428;

Details

Origin ID

C67494;

UMLS CUI

C2348499;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- AML Authorized Value Terminology [NCIt concept]
- AML Minimal Residual Disease Table [NCIt concept]
- AML Molecular Analysis Table [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 13 [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- FLT3 Protein Variant [NCIt concept]
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- Acute Myeloid Leukemia with FLT3/ITD Mutation [NCIt concept]
molecular_abnormality_involves_gene
- FLT3 Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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