t(4;21)(q31;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

T-cell acute lymphoblastic leukemia (T-ALL)

Epidemiology

Only one case to date, a 12 year old male patient.

Prognosis

Unknown.

Genes Involved and Proteins

Note
The gene in 4q31 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
120722072002A new translocation that rearranges the AML1 gene in a patient with T-cell acute lymphoblastic leukemia.Mikhail FM et al

Citation

Jean-Loup Huret

t(4;21)(q31;q22) RUNX1/?

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1262/t(4;21)(q31;q22)

External Links