Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report
Autor(a) principal: | |
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Data de Publicação: | 2013 |
Outros Autores: | , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Revista brasileira de hematologia e hemoterapia (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842013000500369 |
Resumo: | Chromosome abnormalities that usually define high-risk acute lymphoblastic leukemia are the t(9;22)/ breakpoint cluster region protein-Abelson murine leukemia viral oncogene homolog 1, hypodiploid with < 44 chromosomes and 11q23/ myeloid/lymphoid leukemia gene rearrangements. The spectrum of acute lymphoblastic leukemia genetic abnormalities is nevertheless rapidly expanding. Therefore, newly described chromosomal aberrations are likely to have an impact on clinical care in the near future. Recently, the rare intrachromosomal amplification of chromosome 21 started to be considered a high-risk chromosomal abnormality. It occurs in approximately 2-5% of pediatric patients with B-cell precursor acute lymphoblastic leukemia. This abnormality is associated with a poor outcome. Hence, an accurate detection of this abnormality is expected to become very important in the choice of appropriate therapy. In this work the clinical and molecular cytogenetic evaluation by fluorescence in situ hybridization of a child with B-cell precursor acute lymphoblastic leukemia presenting the rare intrachromosomal amplification of chromosome 21 is described. |
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Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case reportLeukemia, lymphoidIn situ hybridization, fluorescenceGene amplificationLeukemia, B-cellChromosomes, human, pair 21/geneticsTranscription factorsCase reportsChromosome abnormalities that usually define high-risk acute lymphoblastic leukemia are the t(9;22)/ breakpoint cluster region protein-Abelson murine leukemia viral oncogene homolog 1, hypodiploid with < 44 chromosomes and 11q23/ myeloid/lymphoid leukemia gene rearrangements. The spectrum of acute lymphoblastic leukemia genetic abnormalities is nevertheless rapidly expanding. Therefore, newly described chromosomal aberrations are likely to have an impact on clinical care in the near future. Recently, the rare intrachromosomal amplification of chromosome 21 started to be considered a high-risk chromosomal abnormality. It occurs in approximately 2-5% of pediatric patients with B-cell precursor acute lymphoblastic leukemia. This abnormality is associated with a poor outcome. Hence, an accurate detection of this abnormality is expected to become very important in the choice of appropriate therapy. In this work the clinical and molecular cytogenetic evaluation by fluorescence in situ hybridization of a child with B-cell precursor acute lymphoblastic leukemia presenting the rare intrachromosomal amplification of chromosome 21 is described.Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular2013-01-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842013000500369Revista Brasileira de Hematologia e Hemoterapia v.35 n.5 2013reponame:Revista brasileira de hematologia e hemoterapia (Online)instname:Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)instacron:ABHHTC10.5581/1516-8484.20130111info:eu-repo/semantics/openAccessGarcia,Daniela Ribeiro NeyArancibia,Alejandro MauricioRibeiro,Raul C.Land,Marcelo Gerardin PoirotSilva,Maria Luiza Macedoeng2013-11-21T00:00:00Zoai:scielo:S1516-84842013000500369Revistahttp://www.rbhh.org/pt/archivo/https://old.scielo.br/oai/scielo-oai.phpsbhh@terra.com.br||secretaria@rbhh.org1806-08701516-8484opendoar:2013-11-21T00:00Revista brasileira de hematologia e hemoterapia (Online) - Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)false |
dc.title.none.fl_str_mv |
Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report |
title |
Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report |
spellingShingle |
Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report Garcia,Daniela Ribeiro Ney Leukemia, lymphoid In situ hybridization, fluorescence Gene amplification Leukemia, B-cell Chromosomes, human, pair 21/genetics Transcription factors Case reports |
title_short |
Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report |
title_full |
Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report |
title_fullStr |
Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report |
title_full_unstemmed |
Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report |
title_sort |
Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report |
author |
Garcia,Daniela Ribeiro Ney |
author_facet |
Garcia,Daniela Ribeiro Ney Arancibia,Alejandro Mauricio Ribeiro,Raul C. Land,Marcelo Gerardin Poirot Silva,Maria Luiza Macedo |
author_role |
author |
author2 |
Arancibia,Alejandro Mauricio Ribeiro,Raul C. Land,Marcelo Gerardin Poirot Silva,Maria Luiza Macedo |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Garcia,Daniela Ribeiro Ney Arancibia,Alejandro Mauricio Ribeiro,Raul C. Land,Marcelo Gerardin Poirot Silva,Maria Luiza Macedo |
dc.subject.por.fl_str_mv |
Leukemia, lymphoid In situ hybridization, fluorescence Gene amplification Leukemia, B-cell Chromosomes, human, pair 21/genetics Transcription factors Case reports |
topic |
Leukemia, lymphoid In situ hybridization, fluorescence Gene amplification Leukemia, B-cell Chromosomes, human, pair 21/genetics Transcription factors Case reports |
description |
Chromosome abnormalities that usually define high-risk acute lymphoblastic leukemia are the t(9;22)/ breakpoint cluster region protein-Abelson murine leukemia viral oncogene homolog 1, hypodiploid with < 44 chromosomes and 11q23/ myeloid/lymphoid leukemia gene rearrangements. The spectrum of acute lymphoblastic leukemia genetic abnormalities is nevertheless rapidly expanding. Therefore, newly described chromosomal aberrations are likely to have an impact on clinical care in the near future. Recently, the rare intrachromosomal amplification of chromosome 21 started to be considered a high-risk chromosomal abnormality. It occurs in approximately 2-5% of pediatric patients with B-cell precursor acute lymphoblastic leukemia. This abnormality is associated with a poor outcome. Hence, an accurate detection of this abnormality is expected to become very important in the choice of appropriate therapy. In this work the clinical and molecular cytogenetic evaluation by fluorescence in situ hybridization of a child with B-cell precursor acute lymphoblastic leukemia presenting the rare intrachromosomal amplification of chromosome 21 is described. |
publishDate |
2013 |
dc.date.none.fl_str_mv |
2013-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842013000500369 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842013000500369 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.5581/1516-8484.20130111 |
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 Brasileira de Hematologia e Hemoterapia e Terapia Celular |
publisher.none.fl_str_mv |
Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular |
dc.source.none.fl_str_mv |
Revista Brasileira de Hematologia e Hemoterapia v.35 n.5 2013 reponame:Revista brasileira de hematologia e hemoterapia (Online) instname:Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC) instacron:ABHHTC |
instname_str |
Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC) |
instacron_str |
ABHHTC |
institution |
ABHHTC |
reponame_str |
Revista brasileira de hematologia e hemoterapia (Online) |
collection |
Revista brasileira de hematologia e hemoterapia (Online) |
repository.name.fl_str_mv |
Revista brasileira de hematologia e hemoterapia (Online) - Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC) |
repository.mail.fl_str_mv |
sbhh@terra.com.br||secretaria@rbhh.org |
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1754213112013127680 |