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Immunophenotype

Quantitative multiparametric immunophenotyping in acute lymphoblastic leukemia: correlation with specific genotype. I. ETV6/AML1 ALLs identification

Leukemia volume 14, pages 1225–1231 (2000)Cite this article

Abstract

The t(12;21)(p13;q22) fusion gene is the most frequent genetic lesion described in precursor B cell acute lymphoblastic leukemia (ALL) of childhood occurring in a quarter of cases. This gene rearrangement is associated with a good outcome presenting a high response rate to chemotherapy. In spite of its potential clinical relevance, the t(12;21) translocation usually goes undetected with conventional cytogenetic procedures. In the present study we utilized an objective flow cytometric approach (multiparametric quantitative analysis) for the phenotypic characterization of this type of ALL. We studied a total of 74 precursor B-ALL children, including 21 t(12;21)+ and 53 t(12;21)− cases. Our results show that the t(12;21)(p13;q22)+ ALLs display a higher intensity of CD10 (P = 0.0016) and HLADR (P = 0.005) expression together with lower levels of the CD20 (P = 0.01), CD45 (P = 0.01), CD135 (P = 0.003) and CD34 (P = 0.03) antigens as compared to the t(12;21)− cases. Moreover, as regards CD34 expression, we observed a more heterogeneous antigen expression within individual patients with higher coefficients of variation (median of 202 vs 88, P = 0.0001). A multivariate analysis disclosed that with the immunophenotypic approach used identification of t(12;21)+ cases can be achieved with a sensitivity of 86% and a specificity of 100%. We conclude that childhood precursor B-ALL carrying the t(12;21) translocation display characteristic phenotypic features which could provide a rapid, simple, sensitive and specific screening method to select for those cases that should undergo confirmatory molecular analysis.

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Acknowledgements

We thank all the investigators from AIEOP Institutions for their collaboration; Maurizio Aricò, MD for helpful discussion and Mr Denis Swift for the editorial scrutiny. This work was supported by AIRC (Associazione Italiana per la Ricerca sul Cancro), MURST ex 40% and 60%; Fondazione Città della Speranza.

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Authors and Affiliations

  1. Dipartimento di Pediatra, Clinica Oncoematologica Pediatrica, Università di Padova, Italy

    L De Zen, L Masiero, MG Cocito, M Spinelli, L Zanesco & G Basso

  2. Servicio de Citometria, Universita de Salamanca, Spain

    A Orfao

  3. Centro Ricerche ‘M. Tettamanti’, Clinica Pediatrica, Università di Milano, Monza, Italy

    G Cazzaniga & A Biondi

  4. Dipartimento di Scienze Pediatriche, Università di Torino, Italy

    A Rivolta & G Basso

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  1. L De Zen
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De Zen, L., Orfao, A., Cazzaniga, G. et al. Quantitative multiparametric immunophenotyping in acute lymphoblastic leukemia: correlation with specific genotype. I. ETV6/AML1 ALLs identification. Leukemia 14, 1225–1231 (2000). https://doi.org/10.1038/sj.leu.2401824

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