Please use this identifier to cite or link to this item: https://repositorio.unifesp.br/handle/11600/1166
Title: Acute promyelocytic leukemia: the study of t(15;17) translocation by fluorescent in situ hybridization, reverse transcriptase-polymerase chain reaction and cytogenetic techniques
Authors: Chauffaille, Maria de Lourdes Lopes Ferrari [UNIFESP]
Figueiredo, Maria Stella [UNIFESP]
Beltrani, R. [UNIFESP]
Antunes, S.v. [UNIFESP]
Yamamoto, Mihoko [UNIFESP]
Kerbauy, José [UNIFESP]
Universidade Federal de São Paulo (UNIFESP)
Keywords: acute promyelocytic leukemia
karyotype
FISH
RT-PCR
PML/RARA genem rearrangement
Issue Date: 1-Jun-2001
Publisher: Associação Brasileira de Divulgação Científica
Citation: Brazilian Journal of Medical and Biological Research. Associação Brasileira de Divulgação Científica, v. 34, n. 6, p. 735-743, 2001.
Abstract: Acute promyelocytic leukemia (AML M3) is a well-defined subtype of leukemia with specific and peculiar characteristics. Immediate identification of t(15;17) or the PML/RARA gene rearrangement is fundamental for treatment. The objective of the present study was to compare fluorescent in situ hybridization (FISH), reverse transcriptase-polymerase chain reaction (RT-PCR) and karyotyping in 18 samples (12 at diagnosis and 6 after treatment) from 13 AML M3 patients. Bone marrow samples were submitted to karyotype G-banding, FISH and RT-PCR. At diagnosis, cytogenetics was successful in 10 of 12 samples, 8 with t(15;17) and 2 without. FISH was positive in 11/12 cases (one had no cells for analysis) and positivity varied from 25 to 93% (mean: 56%). RT-PCR was done in 6/12 cases and all were positive. Four of 8 patients with t(15;17) presented positive RT-PCR as well as 2 without metaphases. The lack of RT-PCR results in the other samples was due to poor quality RNA. When the three tests were compared at diagnosis, karyotyping presented the translocation in 80% of the tested samples while FISH and RT-PCR showed the PML/RARA rearrangement in 100% of them. Of 6 samples evaluated after treatment, 3 showed a normal karyotype, 1 persistence of an abnormal clone and 2 no metaphases. FISH was negative in 4 samples studied and 2 had no material for analysis. RT-PCR was positive in 4 (2 of which showed negative FISH, indicating residual disease) and negative in 2. When the three tests were compared after treatment, they showed concordance in 2 of 6 samples or, when there were not enough cells for all tests, concordance between karyotype and RT-PCR in one. At remission, RT-PCR was the most sensitive test in detecting residual disease, as expected (positive in 4/6 samples). An incidence of about 40% of 5' breaks and 60% of 3' breaks, i.e., bcr3 and bcr1/bcr2, respectively, was observed.
URI: http://repositorio.unifesp.br/handle/11600/1166
ISSN: 0100-879X
Other Identifiers: http://dx.doi.org/10.1590/S0100-879X2001000600006
Appears in Collections:Em verificação - Geral

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