Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report

Detalhes bibliográficos
Autor(a) principal: Ornellas, Maria Helena Faria
Data de Publicação: 2018
Outros Autores: Maioli, Maria Christina Paixão, Lucena, Stella Beatriz Sampaio Gonçalves de, Bastos, Elenice Ferreira, Chaves, Tatiana Silva, Melo, Karina Vieira de, Ribeiro-Carvalho, Marilza de Moura, Liehr, Thomas, Alves, Gilda
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/40966
Resumo: Contexto: Os cariótipos complexos na leucemia mielóide aguda (LMA) são caracterizados por uma baixa taxa de resposta geral com recidivas frequentes após o tratamento clínico. Relato de caso: Aqui, descrevemos o caso de uma mulher obesa de 61 anos com LMA diagnosticada clinicamente que apresentou um cariótipo complexo envolvendo uma anormalidade incomum: cromossomo em anel 11. A análise imunofenotípica confirmou o diagnóstico. Análises citogenéticas clássicas e moleculares, usando bandas GTG e FISH (hibridização por fluorescência in situ), revelaram a presença de rearranjo estrutural complexo envolvendo r (11), add (12) (p13), der (5) e der (13). Conclusões: A análise citogenética molecular é adequada para melhor identificação e caracterização de rearranjos cromossômicos na LMA. Relatos de casos como este, bem como estudos de base populacional, são necessários para entender as alterações cariotípicas que ocorrem em seres humanos.
id CRUZ_f7831016951f88389128242ea8409062
oai_identifier_str oai:www.arca.fiocruz.br:icict/40966
network_acronym_str CRUZ
network_name_str Repositório Institucional da FIOCRUZ (ARCA)
repository_id_str 2135
spelling Ornellas, Maria Helena FariaMaioli, Maria Christina PaixãoLucena, Stella Beatriz Sampaio Gonçalves deBastos, Elenice FerreiraChaves, Tatiana SilvaMelo, Karina Vieira deRibeiro-Carvalho, Marilza de MouraLiehr, ThomasAlves, Gilda2020-04-24T19:18:47Z2020-04-24T19:18:47Z2018ORNELLAS, Maria Helena Faria et al. Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report. São Paulo Medical Journal, São Paulo, v. 136, n. 4, p. 361-367, Aug. 2018.1516-3180https://www.arca.fiocruz.br/handle/icict/4096610.1590/1516-3180.2016.0252150217Contexto: Os cariótipos complexos na leucemia mielóide aguda (LMA) são caracterizados por uma baixa taxa de resposta geral com recidivas frequentes após o tratamento clínico. Relato de caso: Aqui, descrevemos o caso de uma mulher obesa de 61 anos com LMA diagnosticada clinicamente que apresentou um cariótipo complexo envolvendo uma anormalidade incomum: cromossomo em anel 11. A análise imunofenotípica confirmou o diagnóstico. Análises citogenéticas clássicas e moleculares, usando bandas GTG e FISH (hibridização por fluorescência in situ), revelaram a presença de rearranjo estrutural complexo envolvendo r (11), add (12) (p13), der (5) e der (13). Conclusões: A análise citogenética molecular é adequada para melhor identificação e caracterização de rearranjos cromossômicos na LMA. Relatos de casos como este, bem como estudos de base populacional, são necessários para entender as alterações cariotípicas que ocorrem em seres humanos.Context: Complex karyotypes in acute myeloid leukemia (AML) are characterized by an overall low response rate with frequent relapses after clinical treatment. Case report: Here, we describe the case of a 61-year-old obese female with clinically diagnosed AML who presented a complex karyotype involving an uncommon abnormality: ring chromosome 11. Immunophenotypic analysis confirmed the diagnosis. Classical and molecular cytogenetic analyses, using GTG banding and FISH (fluorescence in situ hybridization), revealed the presence of complex structural rearrangement involving r(11), add(12)(p13), der(5) and der(13). Conclusions: Molecular cytogenetic analysis is suitable for better identification and characterization of chromosomal rearrangements in AML. Case reports like this, as well as population-based studies, are necessary for understanding the karyotypic changes that occur in humans.Universidade do Estado do Rio de Janeiro. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Serviço de Hematologia. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Serviço de Hematologia. Rio de Janeiro, RJ, Brasil/ Instituto Nacional de Câncer. Rio de Janeiro, RJ. Brasil.Fundação Oswaldo Cruz. Instituto Nacional da Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Rio de Janeiro, RJ. Brasil. / Universidade do Estado do Rio de Janeiro. Departamento de Hematologia. Rio de Janeiro, RJ. Brasil.Universidade do Estado do Rio de Janeiro.Departamento de Patologia, Rio de Janeiro, RJ, Brasil.Friedrich Schiller University. Jena University Hospital. Institute of Human Genetics, Molecular Cytogenetics Laboratory. Thüringen. Germany.engAssociação Paulista de Medicina - APMCytogeneticAnalysisFemaleHumansIn Situ Hybridization, FluorescenceKaryotypeLeukemiaMyeloid, Acute / geneticsMiddle AgedRing ChromosomesTranslocation, GeneticLeucemia mielóide agudaLeucemiaObesidadeAberrações cromossômicasAnálise citogenéticaLeukemia, myeloid, acuteObesityLeukemiaChromosome aberrationsCytogenetic analysisComplex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case reportinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/40966/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALComplex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia - case report.pdfComplex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia - case report.pdfapplication/pdf4358448https://www.arca.fiocruz.br/bitstream/icict/40966/2/Complex%20karyotype%20including%20ring%20chromosome%2011%20in%20a%20patient%20with%20acute%20myeloid%20leukemia%20-%20case%20report.pdfe66bdca4e37cab53a92512df8c8838d3MD52TEXTComplex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia - case report.pdf.txtComplex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia - case report.pdf.txtExtracted texttext/plain28629https://www.arca.fiocruz.br/bitstream/icict/40966/3/Complex%20karyotype%20including%20ring%20chromosome%2011%20in%20a%20patient%20with%20acute%20myeloid%20leukemia%20-%20case%20report.pdf.txt77884bdc1981a16dee387ce3a59c8c65MD53icict/409662020-04-25 14:28:03.958oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352020-04-25T17:28:03Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
dc.title.pt_BR.fl_str_mv Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report
title Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report
spellingShingle Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report
Ornellas, Maria Helena Faria
Cytogenetic
Analysis
Female
Humans
In Situ Hybridization, Fluorescence
Karyotype
Leukemia
Myeloid, Acute / genetics
Middle Aged
Ring Chromosomes
Translocation, Genetic
Leucemia mielóide aguda
Leucemia
Obesidade
Aberrações cromossômicas
Análise citogenética
Leukemia, myeloid, acute
Obesity
Leukemia
Chromosome aberrations
Cytogenetic analysis
title_short Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report
title_full Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report
title_fullStr Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report
title_full_unstemmed Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report
title_sort Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report
author Ornellas, Maria Helena Faria
author_facet Ornellas, Maria Helena Faria
Maioli, Maria Christina Paixão
Lucena, Stella Beatriz Sampaio Gonçalves de
Bastos, Elenice Ferreira
Chaves, Tatiana Silva
Melo, Karina Vieira de
Ribeiro-Carvalho, Marilza de Moura
Liehr, Thomas
Alves, Gilda
author_role author
author2 Maioli, Maria Christina Paixão
Lucena, Stella Beatriz Sampaio Gonçalves de
Bastos, Elenice Ferreira
Chaves, Tatiana Silva
Melo, Karina Vieira de
Ribeiro-Carvalho, Marilza de Moura
Liehr, Thomas
Alves, Gilda
author2_role author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Ornellas, Maria Helena Faria
Maioli, Maria Christina Paixão
Lucena, Stella Beatriz Sampaio Gonçalves de
Bastos, Elenice Ferreira
Chaves, Tatiana Silva
Melo, Karina Vieira de
Ribeiro-Carvalho, Marilza de Moura
Liehr, Thomas
Alves, Gilda
dc.subject.mesh.pt_BR.fl_str_mv Cytogenetic
Analysis
Female
Humans
In Situ Hybridization, Fluorescence
Karyotype
Leukemia
Myeloid, Acute / genetics
Middle Aged
Ring Chromosomes
Translocation, Genetic
topic Cytogenetic
Analysis
Female
Humans
In Situ Hybridization, Fluorescence
Karyotype
Leukemia
Myeloid, Acute / genetics
Middle Aged
Ring Chromosomes
Translocation, Genetic
Leucemia mielóide aguda
Leucemia
Obesidade
Aberrações cromossômicas
Análise citogenética
Leukemia, myeloid, acute
Obesity
Leukemia
Chromosome aberrations
Cytogenetic analysis
dc.subject.other.pt_BR.fl_str_mv Leucemia mielóide aguda
Leucemia
Obesidade
Aberrações cromossômicas
Análise citogenética
dc.subject.en.pt_BR.fl_str_mv Leukemia, myeloid, acute
Obesity
Leukemia
Chromosome aberrations
Cytogenetic analysis
description Contexto: Os cariótipos complexos na leucemia mielóide aguda (LMA) são caracterizados por uma baixa taxa de resposta geral com recidivas frequentes após o tratamento clínico. Relato de caso: Aqui, descrevemos o caso de uma mulher obesa de 61 anos com LMA diagnosticada clinicamente que apresentou um cariótipo complexo envolvendo uma anormalidade incomum: cromossomo em anel 11. A análise imunofenotípica confirmou o diagnóstico. Análises citogenéticas clássicas e moleculares, usando bandas GTG e FISH (hibridização por fluorescência in situ), revelaram a presença de rearranjo estrutural complexo envolvendo r (11), add (12) (p13), der (5) e der (13). Conclusões: A análise citogenética molecular é adequada para melhor identificação e caracterização de rearranjos cromossômicos na LMA. Relatos de casos como este, bem como estudos de base populacional, são necessários para entender as alterações cariotípicas que ocorrem em seres humanos.
publishDate 2018
dc.date.issued.fl_str_mv 2018
dc.date.accessioned.fl_str_mv 2020-04-24T19:18:47Z
dc.date.available.fl_str_mv 2020-04-24T19:18:47Z
dc.type.status.fl_str_mv 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 ORNELLAS, Maria Helena Faria et al. Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report. São Paulo Medical Journal, São Paulo, v. 136, n. 4, p. 361-367, Aug. 2018.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/40966
dc.identifier.issn.pt_BR.fl_str_mv 1516-3180
dc.identifier.doi.none.fl_str_mv 10.1590/1516-3180.2016.0252150217
identifier_str_mv ORNELLAS, Maria Helena Faria et al. Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report. São Paulo Medical Journal, São Paulo, v. 136, n. 4, p. 361-367, Aug. 2018.
1516-3180
10.1590/1516-3180.2016.0252150217
url https://www.arca.fiocruz.br/handle/icict/40966
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Associação Paulista de Medicina - APM
publisher.none.fl_str_mv Associação Paulista de Medicina - APM
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
bitstream.url.fl_str_mv https://www.arca.fiocruz.br/bitstream/icict/40966/1/license.txt
https://www.arca.fiocruz.br/bitstream/icict/40966/2/Complex%20karyotype%20including%20ring%20chromosome%2011%20in%20a%20patient%20with%20acute%20myeloid%20leukemia%20-%20case%20report.pdf
https://www.arca.fiocruz.br/bitstream/icict/40966/3/Complex%20karyotype%20including%20ring%20chromosome%2011%20in%20a%20patient%20with%20acute%20myeloid%20leukemia%20-%20case%20report.pdf.txt
bitstream.checksum.fl_str_mv 5a560609d32a3863062d77ff32785d58
e66bdca4e37cab53a92512df8c8838d3
77884bdc1981a16dee387ce3a59c8c65
bitstream.checksumAlgorithm.fl_str_mv MD5
MD5
MD5
repository.name.fl_str_mv Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)
repository.mail.fl_str_mv repositorio.arca@fiocruz.br
_version_ 1798325003942363136

Registros relacionados