t(8;12)(q22;q13) HMGA2/?

2005-05-01   Jean-Loup Huret 

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

Clinics and Pathology

Disease

myeloproliferative/myelodysplastic syndrome (MPD/MDS)

Epidemiology

only 1 case to date: a 53yr old female patient with atypical chronic myelogenous leukemia (aCML) (with no BCR-ABL rearrangement)

Cytogenetics

sole anomaly in a subclone; accompanied with del(13q) in another one

Genes Involved and Proteins

Gene name
HMGA2 (high mobility group AT-hook 2)
Location
12q14.3
Protein description
probable role in regulation of cell proliferation (transcriptional regulation of cell cycle and DNA repair genes

Result of the Chromosomal Anomaly

Description

ectopic expression of HMGA2

Bibliography

Pubmed IDLast YearTitleAuthors
156189632005Disruption and aberrant expression of HMGA2 as a consequence of diverse chromosomal translocations in myeloid malignancies.Odero MD et al

Citation

Jean-Loup Huret

t(8;12)(q22;q13) HMGA2/?

Atlas Genet Cytogenet Oncol Haematol. 2005-05-01

Online version: http://atlasgeneticsoncology.org/haematological/1389/t(8;12)(q22;q13)

External Links