Fluorescence in Situ Hybridization Analysis of t(3; 12)(q26;p13): A Recurring Chromosomal Abnormality Involving the TELGene (ETV6)in Myelodysplastic Syndromes

Autor: Raynaud, S.D., Baens, M., Grosgeorge, J., Rodgers, K., Reid, C.D.L., Dainton, M., Dyer, M., Fuzibet, J.G., Gratecos, N., Taillan, B., Ayraud, N., Marynen, P.
Zdroj: Blood; July 1996, Vol. 88 Issue: 2 p682-689, 8p
Abstrakt: We have identified a new recurrent reciprocal translocation between chromosome 3 and 12 with breakpoints at bands 3q26 and 12p13, t(3; 12)(q26;p13) in the malignant cells from five patients with acute transformation of myelodysplastic syndrome or blast crisis of chronic myelogenous leukemia. t(3;12)(q26;p13) appears as a rare but nonrandom event present in various myeloid leukemia subtypes, which is frequently associated with dysplasia of megakaryocytics, multi-lineage involvement, short duration of any blastic phase, and a very poor prognosis. Here, we report the molecular cytogenetic analysis of the t(3;12). Fluorescence in situ hy-bridization results indicate that the 3q26 breakpoints are quite heterogeneous and occur 5' of MDS1, 3' of EVI1, or between MDS1and EVILOur results are very similar to those observed in other 3q26 rearrangements in which breakpoints were shown to occur over considerable distances 5' and 3' of EVILFluorescence in situ hybridization investigations proved that, in three myelodysplastic syndrome cases with t(3;12)(q26;p13), the 12p13 breakpoint occurred within the TELgene.
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