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t(11;12)(q23;q13) (/HMGA2)

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-ANLL with a normal karyotype
Prognosis The RAEB evolved towards a M2-ANLL and the patient died 6 mths after diagnosis

Genes involved and Proteins

Gene Name HGMA2
Location 12q15
Protein probable role in regulation of cell proliferation (transcriptional regulation of cell cycle and DNA repair genes

Result of the chromosomal anomaly

Fusion Protein
Description ectopic expression of HMGA2
  

External links

Other databaset(11;12)(q23;q13) (/HMGA2) Mitelman database (CGAP - NCBI)
Other databaset(11;12)(q23;q13) (/HMGA2) CancerChromosomes (NCBI)

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.

Bibliography

Disruption and aberrant expression of HMGA2 as a consequence of diverse chromosomal translocations in myeloid malignancies.
Odero MD, Grand FH, Iqbal S, Ross F, Roman JP, Vizmanos JL, Andrieux J, LaˆØ JL, Calasanz MJ, Cross NC
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2005 ; 19 (2) : 245-252.
PMID 15618963
 

Contributor(s)

Written05-2005Jean Loup Huret

Citation

This paper should be referenced as such :
Huret JL . t(11;12)(q23;q13) (/HMGA2). Atlas Genet Cytogenet Oncol Haematol. May 2005 .
URL : http://AtlasGeneticsOncology.org/Anomalies/t1112q23q13ID1390.html

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indexed on : Mon May 12 18:12:56 2008


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