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Medical Oncology

, Volume 29, Issue 4, pp 2345–2347 | Cite as

Acute promyelocytic leukemia associated with the PLZF-RARA fusion gene: two additional cases with clinical and laboratorial peculiar presentations

  • Sandra S. Rohr
  • Luís Arthur Flores Pelloso
  • Aline Borgo
  • Livia Chiosini De Nadai
  • Mihoko Yamamoto
  • Eduardo M. Rego
  • Maria de Lourdes L. F. Chauffaille
Short Communication

Abstract

Acute promyelocytic leukemia (APL) is characterized by the presence of the t(15;17) and PML-RARa rearrangement, with good response to treatment with retinoids. However, few cases of variant APL involving alternative chromosomal aberrations have been reported, including t(11;17)(q23;q21) (Wells et al. in Nat Genet 17:109–113, 1; Arnould et al. in Hum Mol Genet 8:1741–1749, 2) t(5;17)(q35;q12-21), t(11;17)(q13;q21) (Grimwade et al in Blood 96:1297–1308, 3) and der(17) (Rego et al. in Blood (ASH Annual Meeting Abstracts)114:Abstract 6, 4), whereby RARa is fused to the PLZF, NPM, NuMA, and STAT5b genes, respectively, have been described. These cases are characterized by distinct morphology, clinical presentation, and in respect to PLZF, a lack of differentiation response to retinoids leading to the need of different approaches concerning diagnostic methods and therapeutics. This paper describes two cases of APL associated with the PLZF-RARA fusion gene enrolled in the IC-APL trial that is a non-randomized, multicenter study conducted in Brazil, Mexico, Chile and Uruguay with the aim to improve the treatment outcome of APL patients in developing countries. These cases, although rare, offer a challenge to its early recognition and proper conduction.

Keywords

Acute promyelocytic leukemia PLZF-RARA t(11;17) Molecular rearrangement Promyelocytic variant translocation 

Notes

Acknowledgments

This study was not funded by any source, and the authors have nothing to disclose.

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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Sandra S. Rohr
    • 1
  • Luís Arthur Flores Pelloso
    • 1
  • Aline Borgo
    • 1
  • Livia Chiosini De Nadai
    • 1
  • Mihoko Yamamoto
    • 1
  • Eduardo M. Rego
    • 2
  • Maria de Lourdes L. F. Chauffaille
    • 1
  1. 1.Disciplina de Hematologia e Hemoterapia, UNIFESP, Escola Paulista de Medicina, Universidade Federal de São PauloSão PauloBrazil
  2. 2.Departamento de HematologiaFaculdade de Medicina de Ribeirão Preto, Universidade de São PauloRibeirão PretoBrazil

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