t(17;21)(q11.2;q22) RUNX1/?

2000-02-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS); de novo AML and treatment related leukemias (t-AML)

Phenotype stem cell origin

one M2, one treatment related RAEBt/M4, one t-AML


two cases are secondary to treatment with topoisomerase II inhibitors for Hodgkin disease and neuroblastoma


3 cases to date; 1M/2F, aged 2yrs, 39 yrs and 76 yrs



Genes Involved and Proteins

the gene involved in 17q11 is unknown; the breakpoint on chromosome 17 is between the loci for NF1 and RARA
Gene name
RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Dna rna description
transcription is from telomere to centromere
Protein description
contains a Runt domain and, in the C-term, a transactivation domain; forms heterodimers; widely expressed; nuclear localisation; transcription factor (activator) for various hematopoietic-specific genes

Result of the Chromosomal Anomaly


5 prime AML1-3 prime unknown; breakpoint in intron 5 or 6 of AML1the N-term is provided by AML1, as in the t(3;21) and in the t(8;21)associated with AMLs, whereas, in the ALL with t(12;21), the fusion protein comprises the C-term part of AML1.


Pubmed IDLast YearTitleAuthors
97635731998CBFA2(AML1) translocations with novel partner chromosomes in myeloid leukemias: association with prior therapy.Roulston D et al


Jean-Loup Huret

t(17;21)(q11.2;q22) RUNX1/?

Atlas Genet Cytogenet Oncol Haematol. 2000-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1181/t(17;21)(q11-2;q22)

External Links