Acute promyelocytic leukemia: the study of t(15;17) translocation by fluorescent in situ hybridization, reverse transcriptase-polymerase chain reaction and cytogenetic techniques
Autor(a) principal: | |
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Data de Publicação: | 2001 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | http://repositorio.unifesp.br/handle/11600/1166 http://dx.doi.org/10.1590/S0100-879X2001000600006 |
Resumo: | 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. |
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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)2015-06-14T13:29:24Z2015-06-14T13:29:24Z2001-06-01Brazilian Journal of Medical and Biological Research. Associação Brasileira de Divulgação Científica, v. 34, n. 6, p. 735-743, 2001.0100-879Xhttp://repositorio.unifesp.br/handle/11600/1166http://dx.doi.org/10.1590/S0100-879X2001000600006S0100-879X2001000600006.pdfS0100-879X200100060000610.1590/S0100-879X2001000600006WOS:000169443400006Acute 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.Universidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Disciplina de Hematologia e HemoterapiaUNIFESP, EPM, Disciplina de Hematologia e HemoterapiaSciELO735-743engAssociação Brasileira de Divulgação CientíficaBrazilian Journal of Medical and Biological Researchacute promyelocytic leukemiakaryotypeFISHRT-PCRPML/RARA genem rearrangementAcute promyelocytic leukemia: the study of t(15;17) translocation by fluorescent in situ hybridization, reverse transcriptase-polymerase chain reaction and cytogenetic techniquesinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESPORIGINALS0100-879X2001000600006.pdfapplication/pdf227239${dspace.ui.url}/bitstream/11600/1166/1/S0100-879X2001000600006.pdf4b58158a58ca5e0a4247541ada7a95d9MD51open accessTEXTS0100-879X2001000600006.pdf.txtS0100-879X2001000600006.pdf.txtExtracted texttext/plain33184${dspace.ui.url}/bitstream/11600/1166/2/S0100-879X2001000600006.pdf.txt5138c7e93aa98ddcc5c5e971ac06e4edMD52open access11600/11662022-11-04 15:31:43.408open accessoai:repositorio.unifesp.br:11600/1166Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestopendoar:34652022-11-04T18:31:43Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.en.fl_str_mv |
Acute promyelocytic leukemia: the study of t(15;17) translocation by fluorescent in situ hybridization, reverse transcriptase-polymerase chain reaction and cytogenetic techniques |
title |
Acute promyelocytic leukemia: the study of t(15;17) translocation by fluorescent in situ hybridization, reverse transcriptase-polymerase chain reaction and cytogenetic techniques |
spellingShingle |
Acute promyelocytic leukemia: the study of t(15;17) translocation by fluorescent in situ hybridization, reverse transcriptase-polymerase chain reaction and cytogenetic techniques Chauffaille, Maria de Lourdes Lopes Ferrari [UNIFESP] acute promyelocytic leukemia karyotype FISH RT-PCR PML/RARA genem rearrangement |
title_short |
Acute promyelocytic leukemia: the study of t(15;17) translocation by fluorescent in situ hybridization, reverse transcriptase-polymerase chain reaction and cytogenetic techniques |
title_full |
Acute promyelocytic leukemia: the study of t(15;17) translocation by fluorescent in situ hybridization, reverse transcriptase-polymerase chain reaction and cytogenetic techniques |
title_fullStr |
Acute promyelocytic leukemia: the study of t(15;17) translocation by fluorescent in situ hybridization, reverse transcriptase-polymerase chain reaction and cytogenetic techniques |
title_full_unstemmed |
Acute promyelocytic leukemia: the study of t(15;17) translocation by fluorescent in situ hybridization, reverse transcriptase-polymerase chain reaction and cytogenetic techniques |
title_sort |
Acute promyelocytic leukemia: the study of t(15;17) translocation by fluorescent in situ hybridization, reverse transcriptase-polymerase chain reaction and cytogenetic techniques |
author |
Chauffaille, Maria de Lourdes Lopes Ferrari [UNIFESP] |
author_facet |
Chauffaille, Maria de Lourdes Lopes Ferrari [UNIFESP] Figueiredo, Maria Stella [UNIFESP] Beltrani, R. [UNIFESP] Antunes, S.v. [UNIFESP] Yamamoto, Mihoko [UNIFESP] Kerbauy, José [UNIFESP] |
author_role |
author |
author2 |
Figueiredo, Maria Stella [UNIFESP] Beltrani, R. [UNIFESP] Antunes, S.v. [UNIFESP] Yamamoto, Mihoko [UNIFESP] Kerbauy, José [UNIFESP] |
author2_role |
author author author author author |
dc.contributor.institution.none.fl_str_mv |
Universidade Federal de São Paulo (UNIFESP) |
dc.contributor.author.fl_str_mv |
Chauffaille, Maria de Lourdes Lopes Ferrari [UNIFESP] Figueiredo, Maria Stella [UNIFESP] Beltrani, R. [UNIFESP] Antunes, S.v. [UNIFESP] Yamamoto, Mihoko [UNIFESP] Kerbauy, José [UNIFESP] |
dc.subject.eng.fl_str_mv |
acute promyelocytic leukemia karyotype FISH RT-PCR PML/RARA genem rearrangement |
topic |
acute promyelocytic leukemia karyotype FISH RT-PCR PML/RARA genem rearrangement |
description |
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. |
publishDate |
2001 |
dc.date.issued.fl_str_mv |
2001-06-01 |
dc.date.accessioned.fl_str_mv |
2015-06-14T13:29:24Z |
dc.date.available.fl_str_mv |
2015-06-14T13:29:24Z |
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info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
Brazilian Journal of Medical and Biological Research. Associação Brasileira de Divulgação Científica, v. 34, n. 6, p. 735-743, 2001. |
dc.identifier.uri.fl_str_mv |
http://repositorio.unifesp.br/handle/11600/1166 http://dx.doi.org/10.1590/S0100-879X2001000600006 |
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0100-879X |
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S0100-879X2001000600006.pdf |
dc.identifier.scielo.none.fl_str_mv |
S0100-879X2001000600006 |
dc.identifier.doi.none.fl_str_mv |
10.1590/S0100-879X2001000600006 |
dc.identifier.wos.none.fl_str_mv |
WOS:000169443400006 |
identifier_str_mv |
Brazilian Journal of Medical and Biological Research. Associação Brasileira de Divulgação Científica, v. 34, n. 6, p. 735-743, 2001. 0100-879X S0100-879X2001000600006.pdf S0100-879X2001000600006 10.1590/S0100-879X2001000600006 WOS:000169443400006 |
url |
http://repositorio.unifesp.br/handle/11600/1166 http://dx.doi.org/10.1590/S0100-879X2001000600006 |
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eng |
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Brazilian Journal of Medical and Biological Research |
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openAccess |
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735-743 |
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Associação Brasileira de Divulgação Científica |
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Associação Brasileira de Divulgação Científica |
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