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

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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Main Authors: 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
Format: Digital revista
Language:English
Published: Associação Paulista de Medicina - APM 2018
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802018000400361
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spelling oai:scielo:S1516-318020180004003612018-09-18Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case reportOrnellas,Maria Helena FariaMaioli,Maria Christina PaixãoLucena,Stella Beatriz Sampaio Gonçalves deBastos,Elenice FerreiraChaves,Tatiana SilvaMelo,Karina Vieira deRibeiro-Carvalho,Marilza de MouraLiehr,ThomasAlves,Gilda Leukemia, myeloid, acute Leukemia Obesity Chromosome aberrations Cytogenetic analysis 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.info:eu-repo/semantics/openAccessAssociação Paulista de Medicina - APMSao Paulo Medical Journal v.136 n.4 20182018-08-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802018000400361en10.1590/1516-3180.2016.0252150217
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country Brasil
countrycode BR
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libraryname SciELO
language English
format Digital
author 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
spellingShingle 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
Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report
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_sort Ornellas,Maria Helena Faria
title Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report
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
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.
publisher Associação Paulista de Medicina - APM
publishDate 2018
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802018000400361
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