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

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

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 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

HMGA2 exon 3 spliced to intron 3 of the gene and an alternative product with exon 2 spliced to intron 2truncated 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

Article Bibliography

Pubmed IDLast YearTitleAuthors

Citation

Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2005-05-01

Online version: http://atlasgeneticsoncology.org/haematological/1393/css/case-report-explorer/js/lib/popper.js