t(11;12)(q23;q13) /HMGA2
2005-05-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
treatment related myelodysplastic syndrome (t-MDS)
Epidemiology
only 1 case to date: a 48yr old female patient with refractory anaemia with excess of blasts (RAEB1) 4 yrs after treatment of a M0-AML with a normal karyotype
Prognosis
The RAEB evolved towards a M2-AML and the patient died 6 mths after diagnosis
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
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15618963 | 2005 | Disruption and aberrant expression of HMGA2 as a consequence of diverse chromosomal translocations in myeloid malignancies. | Odero MD et al |
Citation
Jean-Loup Huret
t(11;12)(q23;q13) /HMGA2
Atlas Genet Cytogenet Oncol Haematol. 2005-05-01
Online version: http://atlasgeneticsoncology.org/haematological/1390/t(11
