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Prognostic value of structural chromosomal rearrangements and small cell clones with high hyperdiploidy in children with acute lymphoblastic leukemia
Authors:Zemanova Zuzana  Michalova Kyra  Sindelarova Lenka  Smisek Petr  Brezinova Jana  Ransdorfova Sarka  Vavra Vladimir  Dohnalova Alena  Stary Jan
Affiliation:Center of Oncocytogenetics, Institute of Clinical Biochemistry and laboratory diagnosis, General Faculty Hospital and 1st Faculty of Medicine of Charles University, 12808 Prague 2, Czech Republic. zuze@vfn.cz
Abstract:In this study, 107 children with acute lymphoblastic leukemia (ALL) were analysed for the presence of hyperdiploidy by cytogenetics and interphase fluorescence in situ hybridisation (I-FISH). Structural aberrations in hyperdiploid cells were investigated by multiple colour FISH (mFISH). Clones with high hyperdiploidy (>50 chromosomes) (HeH) were found in 46 patients (43%). In nine of these (20%), the abnormal clone was present in <20% of the total cell population. There was no significant difference in EFS between those patients with HeH in 2.5-20% or >20% of cells. Structural rearrangements in the HeH clone were found in 10 patients (22%). In this study, HeH karyotypes containing structural aberrations were an indication of a poor prognosis in childhood ALL.
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