t(20;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

Disease

refractory anemia with excess of blasts and M5- acute myeloid leukemia

Etiology

tretment of a non Hodgkin lymphoma 2 yrs before diagnosis in 1 case

Epidemiology

only 2 male patient cases, aged 38 yrs and 69 yrs

Genes Involved and Proteins

Note
The gene in 20q13 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
111068272000Identification of two new translocations that disrupt the AML1 gene.Richkind K et al
85471011995Abnormalities of 3q21 and 3q26 in myeloid malignancy: a United Kingdom Cancer Cytogenetic Group study.Secker-Walker LM et al

Citation

Jean-Loup Huret

t(20;21)(q13;q22) RUNX1/?

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1264/t(20;21)(q13;q22)

External Links