title: Genetic heterogeneity of BCR/ABL+ adult B-cell precursor acute lymphoblastic leukemia: impact on the clinical, biological and immunophenotypical disease characteristics.
abstract: Philadelphia-positive (Ph(+)) B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a genetically heterogeneous disease with a very poor prognosis. In this study, we analyzed the frequency of supernumerary Ph, trisomy 8, monosomy 7, and del(9p21) by FISH and its relationship with the characteristics of the disease, in 46 BCR/ABL(+) adult BCP-ALL patients. The frequency of supernumerary Ph, trisomy 8, monosomy 7 and del(9p21) was 30%, 20%, 15%, and 24%, respectively. Although all patients displayed a BII/common phenotype, supernumerary Ph and trisomy 8 were associated with higher expression of CD19 and CD22 and of CD19, CD34, CD45, and HLA-DR, respectively; in turn, cases with monosomy 7 showed lower CD19, CD22, CD34, and cCD79a and del(9p21)(+) blasts were CD13(-) and CD33(-). Overall, similar clinical and hematological features were observed at presentation, independently of the underlying genetic abnormalities. However, relapse-free survival (RFS) was significantly shorter in cases with supernumerary Ph, trisomy 8, and del(9p21), the latter being the most powerful independent prognostic factor for RFS.
authors.affiliation: Servicio General de Citometría and Departamento de Medicina, University of Salamanca, Salamanca, Spain.
authors.forename: D
authors.initials: D
authors.lastname: Primo
authors.forename: M D
authors.initials: MD
authors.lastname: Tabernero
authors.forename: J J
authors.initials: JJ
authors.lastname: Perez
authors.forename: A
authors.initials: A
authors.lastname: Rasillo
authors.forename: J M
authors.initials: JM
authors.lastname: Sayagués
authors.forename: A B
authors.initials: AB
authors.lastname: Espinosa
authors.forename: M C
authors.initials: MC
authors.lastname: Lopez-Berges
authors.forename: R
authors.initials: R
authors.lastname: García-Sanz
authors.forename: N C
authors.initials: NC
authors.lastname: Gutierrez
authors.forename: J M
authors.initials: JM
authors.lastname: Hernandez
authors.forename: M
authors.initials: M
authors.lastname: Romero
authors.forename: C S
authors.initials: CS
authors.lastname: Osuna
authors.forename: M
authors.initials: M
authors.lastname: Giralt
authors.forename: M
authors.initials: M
authors.lastname: Barbon
authors.forename: J F
authors.initials: JF
authors.lastname: San Miguel
authors.forename: A
authors.initials: A
authors.lastname: Orfao
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002051:Burkitt Lymphoma / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D002869:Chromosome Aberrations; D004247:DNA / Q000235:genetics; D018572:Disease-Free Survival; D005260:Female; D005434:Flow Cytometry / Q000379:methods; D016044:Fusion Proteins, bcr-abl / Q000235:genetics* / Q000276:immunology; D018740:Genetic Heterogeneity; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007399:Interphase; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D011003:Ploidies; D013997:Time Factors
chemical_list: D004247:DNA; D016044:Fusion Proteins, bcr-abl