t(12;21)(q24;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

Disease

acute myeloid leukemia (AML)

Etiology

may be treatment related

Epidemiology

only one case to date, a 66 yr old male patient

Genes Involved and Proteins

Note
The gene in 12q24 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))
Location
21q22.12
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

Bibliography

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

Summary

Atlas Image
t(12;21)(q24;q22) G- banding - Courtesy Melanie Zenger and Claudia Haferlach.

Citation

Jean-Loup Huret

t(12;21)(q24;q22) RUNX1/?

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1268/t(12;21)(q24;q22)

External Links