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t(12;20)(q15;q11.2) HMGA2 truncated

Written2005-05Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1393

Clinics and Pathology

Disease myelodysplastic/myeloproliferative syndrome, unclassifiable
Epidemiology only 1 case to date: a 67 yr old female patient without BCR-ABL rearrangement
Cytology basophilia (10%) and bone marrow fibrosis
Cytogenetics additional anomaly: add(6)
Prognosis survival: 20 mths+; largely asymptomatic

Genes involved and Proteins

Gene NameHMGA2 (high mobility group AT-hook 2)
Location 12q14.3
Protein probable role in regulation of cell proliferation (transcriptional regulation of cell cycle and DNA repair genes

Result of the chromosomal anomaly

Hybrid gene
Description HMGA2 exon 3 spliced to intron 3 of the gene and an alternative product with exon 2 spliced to intron 2
Fusion Protein
Description truncated HMGA2 (normal exons 1 to 3 followed by 7 amino acids from intron 3 and normal exons 1-2plus 15 amino acids from intron 2); ectopic expression of HMGA2

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.


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, Laï 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


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2005;9(3):258-258.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(12;20)(q15;q11.2) HMGA2 truncated

External links

Mitelman databaset(12;20)(q15;q11.2) [Case List]    t(12;20)(q15;q11.2) [Transloc-MCList] HMGA2 [Fusion-MCList]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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