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: São Paulo medical journal (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802018000400361
Resumo: ABSTRACT 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.
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spelling Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case reportLeukemia, myeloid, acuteLeukemiaObesityChromosome aberrationsCytogenetic analysisABSTRACT 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.Associação Paulista de Medicina - APM2018-08-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802018000400361Sao Paulo Medical Journal v.136 n.4 2018reponame:São Paulo medical journal (Online)instname:Associação Paulista de Medicinainstacron:APM10.1590/1516-3180.2016.0252150217info:eu-repo/semantics/openAccessOrnellas,Maria Helena FariaMaioli,Maria Christina PaixãoLucena,Stella Beatriz Sampaio Gonçalves deBastos,Elenice FerreiraChaves,Tatiana SilvaMelo,Karina Vieira deRibeiro-Carvalho,Marilza de MouraLiehr,ThomasAlves,Gildaeng2018-09-18T00:00:00Zoai:scielo:S1516-31802018000400361Revistahttp://www.scielo.br/spmjhttps://old.scielo.br/oai/scielo-oai.phprevistas@apm.org.br1806-94601516-3180opendoar:2018-09-18T00:00São Paulo medical journal (Online) - Associação Paulista de Medicinafalse
dc.title.none.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
Leukemia, myeloid, acute
Leukemia
Obesity
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.por.fl_str_mv Leukemia, myeloid, acute
Leukemia
Obesity
Chromosome aberrations
Cytogenetic analysis
topic Leukemia, myeloid, acute
Leukemia
Obesity
Chromosome aberrations
Cytogenetic analysis
description ABSTRACT 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.
publishDate 2018
dc.date.none.fl_str_mv 2018-08-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802018000400361
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802018000400361
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/1516-3180.2016.0252150217
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
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 Sao Paulo Medical Journal v.136 n.4 2018
reponame:São Paulo medical journal (Online)
instname:Associação Paulista de Medicina
instacron:APM
instname_str Associação Paulista de Medicina
instacron_str APM
institution APM
reponame_str São Paulo medical journal (Online)
collection São Paulo medical journal (Online)
repository.name.fl_str_mv São Paulo medical journal (Online) - Associação Paulista de Medicina
repository.mail.fl_str_mv revistas@apm.org.br
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