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

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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 develo** countries. These cases, although rare, offer a challenge to its early recognition and proper conduction.

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Acknowledgments

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

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Authors and Affiliations

  1. Disciplina de Hematologia e Hemoterapia, UNIFESP, Escola Paulista de Medicina, Universidade Federal de São Paulo, Rua Botucatu, 740-3.andar, São Paulo, SP, CEP 04023-900, Brazil

    Sandra S. Rohr, Luís Arthur Flores Pelloso, Aline Borgo, Livia Chiosini De Nadai, Mihoko Yamamoto & Maria de Lourdes L. F. Chauffaille

  2. Departamento de Hematologia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, Brazil

    Eduardo M. Rego

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  1. Sandra S. Rohr
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  2. Luís Arthur Flores Pelloso
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  3. Aline Borgo
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  4. Livia Chiosini De Nadai
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  5. Mihoko Yamamoto
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  6. Eduardo M. Rego
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  7. Maria de Lourdes L. F. Chauffaille
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Correspondence to Sandra S. Rohr.

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Rohr, S.S., Pelloso, L.A.F., Borgo, A. et al. Acute promyelocytic leukemia associated with the PLZF-RARA fusion gene: two additional cases with clinical and laboratorial peculiar presentations. Med Oncol 29, 2345–2347 (2012). https://doi.org/10.1007/s12032-011-0147-y

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  • DOI: https://doi.org/10.1007/s12032-011-0147-y

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