t(5;21)(q13;q22) RUNX1/?

2003-02-01   Jean-Loup Huret 

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

Clinics and Pathology


myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML)

Phenotype stem cell origin

1 case of refractory anemia with excess of blastsin transformation (RAEB-t), 1 MDS evolving towards a M4-AML, 2 M2-AML, and 1 AML not otherwise specified


5 cases to date; 3M/2F, aged 58 yr (median, range: 31-75)

Genes Involved and Proteins

The gene in 5q13 is yet unknown, and, because cryptic t(12;21) ETV6 /AML1 are not rare, it is therefore uncertain whether this translocation involve a new AML1 partner
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


Pubmed IDLast YearTitleAuthors
119077952002Testicular infiltration in acute myeloid leukemia with complex karyotype including t(8;21).Giagounidis AA et al
86407291996A new translocation, t(5;21)(q13;q22) in acute myelogenous leukemia.Gogineni SK et al
105347691999Combined spectral karyotyping and DAPI banding analysis of chromosome abnormalities in myelodysplastic syndrome.Kakazu N et al
108250082000Concurrent translocations of MLL and CBFA2 (AML1) genes with new partner breakpoints in a child with secondary myelodysplastic syndrome after treatment of acute lymphoblastic leukemia.Mathew S et al
73178731981Chromosome pattern, occupation, and clinical features in patients with acute nonlymphocytic leukemia.Mitelman F et al
97635731998CBFA2(AML1) translocations with novel partner chromosomes in myeloid leukemias: association with prior therapy.Roulston D et al


Jean-Loup Huret

t(5;21)(q13;q22) RUNX1/?

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1174/t(5;21)(q13;q22)

External Links