Chromosomal instability in chronic myeloid leukemia: Philadelphia breakpoints are independent of spontaneous breakage and fragile sites

Increased frequencies of spontaneous and bromodeoxyuridine induced breakages with a non-random distribution of breakpoints were found in patients with chronic myeloid scientific correspondence 1105 Haematologica vol. 85(10):October 2000 leukemia, suggesting the presence of chromosome instability. Bands 9q34 or 22q11 were not damaged in these patients, demonstrating that the origin of the Philadelphia chromosome is independent of spontaneous breakage or fragile site expression.Fil: Fundia, Ariela Freya. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: Acevedo, Susana Haydee. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas ; ArgentinaFil: Larripa, Irene Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentin

Evaluation of constitutional chromosome aberrations in hematologic disorders

We have reviewed 4164 patients with various hematologic disorders cytogenetically studied in our laboratory during the last 25 years to analyze the frequency of constitutional chromosome aberrations (CCA) and to evaluate their association with hematologic malignancies. Our population of patients included 1133 pediatric patients and 3031 adults. Twenty-four (0.58%) cases showed CCA. They included four patients with Robertsonian translocations, one patient with a balanced translocation, two patients with sex chromosome abnormalities, and 17 cases with Down syndrome (DS). Nonsignificant differences among the frequency of patients with CCA from our hematologic series and those observed in the two largest combined surveys of livebirth published (0.65-0.84%) were found. The incidence of DS patients in our population (0.41%) was approximately three times higher than of that observed at birth (0.12-0.17%; P<0.001). The total incidence of constitutional chromosome abnormalities in the non-DS hematologic patients was 0.168% (7 of 4164) lower than of that observed in the newborn population (0.51-0.67%; P<0.001). Nonsignificant differences were found when the incidences of structural aberrations and sex chromosome anomalies were individually compared with the data of the overall population. Our results suggest that the presence of a CCA, other than DS, would not predispose patients to hematologic malignancies. © 2002 Elsevier Science Inc. All rights reserved.Fil: Cerretini, Roxana. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; ArgentinaFil: Acevedo, Susana Haydee. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Chena, Christian. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Belli, Carolina Bárbara. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Larripa, Irene Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Slavutsky, Irma Rosa. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentin