t(8;21)(q24;q22) RUNX1/TRPS1
2003-02-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
T-cell acute lymphoblastic leukemia (ALL) and acute non lymhocytic leukemia (AML)
Phenotype stem cell origin
1 case of T-cell ALL and 2 cases of AML, one of which was a M4
Epidemiology
2 documented cases, male patients aged 5 yrs (ALL case) and 42 yrs (AML case)
Genes Involved and Proteins
Note
this translocation may be heterogeneous at the molecular level, as it is concerning the phenotype
Gene name
TRPS1 (transcriptional repressor GATA binding 1)
Location
8q23.3
Protein description
transcriptional repressor
Germinal mutations
involved in tricho-rhino-phalangeal syndrome
Somatic mutations
involved with AML1in the M4-AML case
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
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|
Summary
Fusion gene
RUNX1/TRPS1 RUNX1 (21q22.12) TRPS1 (8q23.3) M t(8;21)(q23;q22)|RUNX1/TRPS1 RUNX1 (21q22.12) TRPS1 (8q23.3) TIC
Citation
Jean-Loup Huret
t(8;21)(q24;q22) RUNX1/TRPS1
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/haematological/1263/t(8;21)(q24;q22)-runx1-trps1
