t(6;21)(p22;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


Treatment related myelodysplastic syndrome (refractory anemia with excess of blasts: RAEB)


RAEB occurred 60 w after diagnosis of an acute lymphoblastic leukemia treated with topoisomerase II inhibitors


only one case to date, a 4 yr old female patient


the patient died 10 mths after diagnosis

Genes Involved and Proteins

The gene in 6p22 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
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
115502882001Novel cryptic, complex rearrangements involving ETV6-CBFA2 (TEL-AML1) genes identified by fluorescence in situ hybridization in pediatric patients with acute lymphoblastic leukemia.Mathew S et al


Jean-Loup Huret

t(6;21)(p22;q22) RUNX1-?

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1266/t(6;21)(p22;q22)