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Download Leukaemia Section t(12;20)(q15;q11.2) Atlas of Genetics and Cytogenetics in Oncology and Haematology
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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Leukaemia Section Short Communication t(12;20)(q15;q11.2) Jean Loup Huret Genetics, Dept Medical Information, UMR 8125 CNRS, University of Poitiers, CHU Poitiers Hospital, F86021 Poitiers, France (JLH) Published in Atlas Database: May 2005 Online updated version: http://AtlasGeneticsOncology.org/Anomalies/t1220q15q11ID1393.html DOI: 10.4267/2042/38228 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2005 Atlas of Genetics and Cytogenetics in Oncology and Haematology Clinics and pathology Result of the chromosomal anomaly 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. 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 Ttruncated 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. References Genes involved and proteins Odero MD, Grand FH, Iqbal S, Ross F, Roman JP, Vizmanos JL, Andrieux J, Laï JL, Calasanz MJ, Cross NC. Disruption and aberrant expression of HMGA2 as a consequence of diverse chromosomal translocations in myeloid malignancies. Leukemia. 2005 Feb;19(2):245-52 HGMA2 Location 12q15 Protein Probable role in regulation of cell proliferation (transcriptional regulation of cell cycle and DNA repair genes. Atlas Genet Cytogenet Oncol Haematol. 2005; 9(3) This article should be referenced as such: Huret JL. t(12;20)(q15;q11.2). Atlas Genet Cytogenet Oncol Haematol. 2005; 9(3):249. 249
