Leukemia Research
Volume 28, Issue 10 , Pages 1033-1038, October 2004

High frequency of t(12;21)(p13;q22) in children with acute lymphoblastic leukemia and known clinical outcome in southern Brazil

  • Loraine Beatriz Acosta Veiga

      Affiliations

    • Departamento de Genética, Laboratório de Citogenética Humana, Universidade Federal do Paraná, Centro Politecnico, Jardim das Americas, Curitiba, PR 81531, Brazil
  • ,
  • Virginia Maria Cóser

      Affiliations

    • Departamento de Hematologia/Oncologia, Laboratório de Citogenética Humana, Hospital Universitário, Universidade Federal de Santa Maria, Santa Maria, RS, Campus Universitário—Camobi, Santa Maria, RS 97119, Brazil
  • ,
  • Luciane Regina Cavalli

      Affiliations

    • Institute for Molecular and Human Genetics/Lombardi Comprehensive Cancer Center, Georgetown University, 3800 Reservoir Road, NW M4000, Washington, DC 20007, USA
  • ,
  • Iglenir João Cavalli

      Affiliations

    • Departamento de Genética, Laboratório de Citogenética Humana, Universidade Federal do Paraná, Centro Politecnico, Jardim das Americas, Curitiba, PR 81531, Brazil
  • ,
  • Jacqueline Nunes Rodrigues

      Affiliations

    • Departamento de Hematologia/Oncologia, Laboratório de Citogenética Humana, Hospital Universitário, Universidade Federal de Santa Maria, Santa Maria, RS, Campus Universitário—Camobi, Santa Maria, RS 97119, Brazil
  • ,
  • Waldir Veiga Pereira

      Affiliations

    • Departamento de Hematologia/Oncologia, Laboratório de Citogenética Humana, Hospital Universitário, Universidade Federal de Santa Maria, Santa Maria, RS, Campus Universitário—Camobi, Santa Maria, RS 97119, Brazil
  • ,
  • Dalnei Veiga Pereira

      Affiliations

    • Departamento de Hematologia/Oncologia, Laboratório de Citogenética Humana, Hospital Universitário, Universidade Federal de Santa Maria, Santa Maria, RS, Campus Universitário—Camobi, Santa Maria, RS 97119, Brazil
  • ,
  • Thereza Christina Sampaio Lafayette

      Affiliations

    • Departamento de Hematologia/Oncologia, Laboratório de Citogenética Humana, Hospital Universitário, Universidade Federal de Santa Maria, Santa Maria, RS, Campus Universitário—Camobi, Santa Maria, RS 97119, Brazil
  • ,
  • Benônio Terra Villalba

      Affiliations

    • Departamento de Hematologia/Oncologia, Laboratório de Citogenética Humana, Hospital Universitário, Universidade Federal de Santa Maria, Santa Maria, RS, Campus Universitário—Camobi, Santa Maria, RS 97119, Brazil
  • ,
  • Mauber Eduardo Schultz Moreira

      Affiliations

    • Departamento de Hematologia/Oncologia, Laboratório de Citogenética Humana, Hospital Universitário, Universidade Federal de Santa Maria, Santa Maria, RS, Campus Universitário—Camobi, Santa Maria, RS 97119, Brazil
  • ,
  • Bassem R Haddad

      Affiliations

    • Institute for Molecular and Human Genetics/Lombardi Comprehensive Cancer Center, Georgetown University, 3800 Reservoir Road, NW M4000, Washington, DC 20007, USA
    • Corresponding Author InformationCorresponding author. Tel.: +1-202-444-0759; fax: +1-202-444-1770.
  • ,
  • Enilze Maria de Souza Fonseca Ribeiro

      Affiliations

    • Departamento de Genética, Laboratório de Citogenética Humana, Universidade Federal do Paraná, Centro Politecnico, Jardim das Americas, Curitiba, PR 81531, Brazil
    • Co-corresponding author.

Received 4 November 2003; accepted 9 February 2004.

Abstract 

The presence of the t(12;21)(p13;q22) distinguishes a subset of children with acute lymphoblastic leukemia (ALL) that present a favorable prognosis. This is a cryptic translocation difficult to detect through conventional cytogenetics. In this study, bone marrow samples from 30 children with ALL from southern Brazil were evaluated by fluorescence in situ hybridization (FISH) for the t(12;21), using locus specific probes to detect the TEL/AML1 rearrangement. The selection criteria included: age (0–12 years old); FAB classification (L1 or L2), absence of specific clonal chromosomal aberrations; and adequate cellular integrity to perform FISH analysis. A frequency of 40% of the t(12;21) was observed, in addition to extra copies of the AML1 gene in 7.5% of patients. These findings were analyzed in relation to the patient’s clinical parameters and compared with other pediatric populations.

Keywords:  Pediatric ALL, t(12:21), AML1/TEL fusion, FISH, Cytogenetics, Clinical outcome

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PII: S0145-2126(04)00051-7

doi:10.1016/j.leukres.2004.02.004

Leukemia Research
Volume 28, Issue 10 , Pages 1033-1038, October 2004