Acute promyelocytic leukemia associated with the PLZF-RARA fusion gene: two additional cases with clinical and laboratorial peculiar presentations.
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.
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.rohr@gmail.com
Sandra S
SS
Rohr
Luís Arthur Flores
LA
Pelloso
Aline
A
Borgo
Livia Chiosini
LC
De Nadai
Mihoko
M
Yamamoto
Eduardo M
EM
Rego
Maria
M
de Lourdes L F Chauffaille
D000328:Adult; D002880:Chromosomes, Human, Pair 11; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D014178:Translocation, Genetic
D015514:Oncogene Proteins, Fusion; C118318:PLZF-RARalpha fusion protein, human