title: [Copy number alterations in adult patients with mature B acute lymphoblastic leukemia treated with specific immunochemotherapy].
abstract: OBJECTIVE
  Unlike Burkitt lymphoma, molecular abnormalities other than C-MYC rearrangements have scarcely been studied in patients with mature B acute lymphoblastic leukemia (B-ALL). The aim of this study was to analyze the frequency and prognostic significance of copy number alterations (CNA) in genes involved in lymphoid differentiation, cell cycle and tumor suppression in adult patients with B-ALL.
  
  
  METHODS
  We have analyzed by multiplex ligation-dependent probe amplification the genetic material from bone marrow at diagnosis from 25 adult B-ALL patients treated with rituximab and specific chemotherapy.
  
  
  RESULTS
  The most frequent CNA were alterations in the 14q32.33 region (11 cases, 44%) followed by alterations in the cell cycle regulator genes CDKN2A/B and RB1 (16%). No correlation between the presence of specific CNA and the clinical-biologic features or the response to therapy was found.
  
  
  CONCLUSIONS
  The high frequency of CNA in the 14q32.33 region, CDKN2A/B and RB1 found in our study could contribute to the aggressiveness and invasiveness of mature B-ALL.
authors.affiliation: Clinical Hematology Department, ICO-Hospital Germans Trias i Pujol, Josep Carreras Leukaemia Research Institute (IJC), Universitat Autònoma de Barcelona, Badalona, Barcelona, España.
authors.forename: Jordi
authors.initials: J
authors.lastname: Ribera
authors.affiliation: Clinical Hematology Department, ICO-Hospital Germans Trias i Pujol, Josep Carreras Leukaemia Research Institute (IJC), Universitat Autònoma de Barcelona, Badalona, Barcelona, España.
authors.forename: Lurdes
authors.initials: L
authors.lastname: Zamora
authors.affiliation: Clinical Hematology Department, ICO-Hospital Germans Trias i Pujol, Josep Carreras Leukaemia Research Institute (IJC), Universitat Autònoma de Barcelona, Badalona, Barcelona, España.
authors.forename: Olga
authors.initials: O
authors.lastname: García
authors.affiliation: Hematology Department, Hospital Universitario de Salamanca, IBSAL, IBMCC, Centre for Cancer Research Universidad de Salamanca-CSIC, Salamanca, España.
authors.forename: Jesús-María
authors.initials: JM
authors.lastname: Hernández-Rivas
authors.affiliation: Clinical Hematology Department, ICO-Hospital Germans Trias i Pujol, Josep Carreras Leukaemia Research Institute (IJC), Universitat Autònoma de Barcelona, Badalona, Barcelona, España. Electronic address: egenesca@carrerasresearch.org.
authors.forename: Eulàlia
authors.initials: E
authors.lastname: Genescà
authors.affiliation: Clinical Hematology Department, ICO-Hospital Germans Trias i Pujol, Josep Carreras Leukaemia Research Institute (IJC), Universitat Autònoma de Barcelona, Badalona, Barcelona, España.
authors.forename: Josep-Maria
authors.initials: JM
authors.lastname: Ribera
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000074322:Antineoplastic Agents, Immunological / Q000627:therapeutic use*; D014408:Biomarkers, Tumor / Q000235:genetics*; D056915:DNA Copy Number Variations; D005260:Female; D018628:Gene Dosage; D005819:Genetic Markers; D006801:Humans; D053208:Kaplan-Meier Estimate; D008297:Male; D008875:Middle Aged; D009361:Neoplasm Invasiveness; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D011379:Prognosis; D000069283:Rituximab / Q000627:therapeutic use*; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D000074322:Antineoplastic Agents, Immunological; D014408:Biomarkers, Tumor; D005819:Genetic Markers; D000069283:Rituximab
keywords: 14q32.33 region; Alteraciones del número de copias; Amplificación de sondas dependiente de ligamento múltiple; Copy number alterations; Leucemia linfoblástica B madura; Mature B-leukemia; Multiplex ligation-dependent probe amplification; Región 14q32.33