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

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

Author Rohr, Sandra S. Autor UNIFESP Google Scholar
Flores Pelloso, Luis Arthur Autor UNIFESP Google Scholar
Borgo, Aline Autor UNIFESP Google Scholar
De Nadai, Livia Chiosini Autor UNIFESP Google Scholar
Yamamoto, Mihoko Autor UNIFESP Google Scholar
Rego, Eduardo M. Google Scholar
Chauffaille, Maria de Lourdes L. F. Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
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
Language English
Date 2012-12-01
Published in Medical Oncology. Totowa: Humana Press Inc, v. 29, n. 4, p. 2345-2347, 2012.
ISSN 1357-0560 (Sherpa/Romeo, impact factor)
Publisher Humana Press Inc
Extent 2345-2347
Origin http://dx.doi.org/10.1007/s12032-011-0147-y
Access rights Closed access
Type Article
Web of Science ID WOS:000309711600006
URI http://repositorio.unifesp.br/handle/11600/35547

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