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...

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Veröffentlicht in:Medical oncology (Northwood, London, England) London, England), 2012-12, Vol.29 (4), p.2345-2347
Hauptverfasser: Rohr, Sandra S., Pelloso, Luís Arthur Flores, Borgo, Aline, De Nadai, Livia Chiosini, Yamamoto, Mihoko, Rego, Eduardo M., de Lourdes L. F. Chauffaille, Maria
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container_title Medical oncology (Northwood, London, England)
container_volume 29
creator Rohr, Sandra S.
Pelloso, Luís Arthur Flores
Borgo, Aline
De Nadai, Livia Chiosini
Yamamoto, Mihoko
Rego, Eduardo M.
de Lourdes L. F. Chauffaille, Maria
description 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.
doi_str_mv 10.1007/s12032-011-0147-y
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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.</abstract><cop>Boston</cop><pub>Springer US</pub><pmid>22205181</pmid><doi>10.1007/s12032-011-0147-y</doi><tpages>3</tpages></addata></record>
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subjects Adult
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 17
Female
Hematology
Humans
Internal Medicine
Leukemia
Leukemia, Promyelocytic, Acute - genetics
Male
Medicine
Medicine & Public Health
Middle Aged
Oncogene Proteins, Fusion - genetics
Oncology
Pathology
Short Communication
Translocation, Genetic
title Acute promyelocytic leukemia associated with the PLZF-RARA fusion gene: two additional cases with clinical and laboratorial peculiar presentations
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