t(8;21)(q24;q22) RUNX1/TRPS1

2003-02-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


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


2 documented cases, male patients aged 5 yrs (ALL case) and 42 yrs (AML case)

Genes Involved and Proteins

this translocation may be heterogeneous at the molecular level, as it is concerning the phenotype
Gene name
TRPS1 (transcriptional repressor GATA binding 1)
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))
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
117737012002Structure and function of GC79/TRPS1, a novel androgen-repressible apoptosis gene.Chang GT et al
83210441993Clinical significance of TAL1 gene alteration in childhood T-cell acute lymphoblastic leukemia and lymphoma.Kikuchi A et al
25981631989Abnormalities of chromosome 1 in relation to human malignant diseases.Oláh E et al


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


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)