t(12;21) ETV6-RUNX1

GPTKB entity

Statements (22)
Predicate Object
gptkbp:instanceOf chromosomal band
gptkbp:age children
gptkbp:alsoKnownAs ETV6-RUNX1 fusion
TEL-AML1 fusion
gptkbp:chromosomeInvolved gptkb:chromosome_12
chromosome 21
gptkbp:discoveredIn 1990s
gptkbp:effect disrupts normal hematopoiesis
gptkbp:formsFusionGeneWith ETV6-RUNX1
gptkbp:foundIn leukemia
gptkbp:frequencyInALL ~25% of childhood B-cell ALL
gptkbp:hasDiagnosticMethod gptkb:FISH
gptkb:RT-PCR
https://www.w3.org/2000/01/rdf-schema#label t(12;21) ETV6-RUNX1
gptkbp:ICD-10_code C91.0 (for ALL)
gptkbp:involvedIn gptkb:RUNX1
gptkb:ETV6
gptkbp:mechanismOfAction fusion of ETV6 gene on 12p13 to RUNX1 gene on 21q22
gptkbp:prognosis favorable
gptkbp:significance marker for risk stratification in ALL
gptkbp:bfsParent gptkb:pre-B-cell_acute_lymphoblastic_leukemia
gptkbp:bfsLayer 7