t(3;21)(p12;q22) RUNX1/?

2008-08-01   Jean-Loup Huret 

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

Clinics and Pathology

Disease

M7-AML (megakaryoblastic acute myeloid leukemia) with t(9;22); the t(3;21) may be therapy related.

Epidemiology

Only one case to date, a male patient aged 60 years (Jeandidier et al., 2006).

Genes Involved and Proteins

Note
The partner of RUNX1 is unknown.
Gene name
RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location
21q22.12
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
166161062006Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Français de Cytogénétique Hématologique.Jeandidier E et al

Citation

Jean-Loup Huret

t(3;21)(p12;q22) RUNX1/?

Atlas Genet Cytogenet Oncol Haematol. 2008-08-01

Online version: http://atlasgeneticsoncology.org/haematological/1524/t(3;21)(p12;q22)

External Links