Association of loss of heterozygosity with cytogenetic abnormalities in acute myeloid leukemia and myelodysplastic syndrome
Autor(a) principal: | |
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Data de Publicação: | 2008 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNIFESP |
dARK ID: | ark:/48912/00130000136zh |
Texto Completo: | http://dx.doi.org/10.1590/S0100-879X2008000700010 http://repositorio.unifesp.br/handle/11600/4474 |
Resumo: | Deletions on chromosomes 5 and 7 are frequently seen in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). It is assumed that these deletions indicate loss of tumor suppressor genes on these chromosomes and until these tumor suppressor genes are identified, the functional consequences of these deletions and the molecular basis of these myeloid disorders cannot be completely understood. We evaluated loss of heterozygosity (LOH) in 44 patients (18 MDS and 26 AML, diagnosed according to WHO classification criteria) at diagnosis, using a four-microsatellite marker panel: an intragenic marker on the 7th intron of gene IRF-1 of the 5q31.1 region and three markers located inside the 7q31.1 region and correlated the LOH with karyotype abnormalities. The microsatellites chosen corresponded to chromosome regions frequently deleted in MDS/AML. The samples with Q (peak area) less than or equal to 0.50 were indicative of LOH. The percent of informative samples (i.e., heterozygous) for the intragenic microsatellite in gene IRF-1 and in loci D7S486, D7S515 and D7S522 were 66.6, 73.7, 75.5, and 48.8%, respectively. Cytogenetic abnormalities by G-banding were found in 36% (16/44) of the patients (2 of 18 MDS and 14 of 26 AML patients). We found a significantly positive association of the occurrence of LOH with abnormal karyotype (P < 0.05; chi-square test) and there were cases with LOH but the karyotype was normal (by G-banding). These data indicate that LOH in different microsatellite markers is possibly an event previous to chromosomal abnormalities in these myeloid neoplasias. |
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Association of loss of heterozygosity with cytogenetic abnormalities in acute myeloid leukemia and myelodysplastic syndromeMyelodysplastic syndromeAcute myeloid leukemiaCytogenetic abnormalitiesLoss of heterozygosityDeletions on chromosomes 5 and 7 are frequently seen in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). It is assumed that these deletions indicate loss of tumor suppressor genes on these chromosomes and until these tumor suppressor genes are identified, the functional consequences of these deletions and the molecular basis of these myeloid disorders cannot be completely understood. We evaluated loss of heterozygosity (LOH) in 44 patients (18 MDS and 26 AML, diagnosed according to WHO classification criteria) at diagnosis, using a four-microsatellite marker panel: an intragenic marker on the 7th intron of gene IRF-1 of the 5q31.1 region and three markers located inside the 7q31.1 region and correlated the LOH with karyotype abnormalities. The microsatellites chosen corresponded to chromosome regions frequently deleted in MDS/AML. The samples with Q (peak area) less than or equal to 0.50 were indicative of LOH. The percent of informative samples (i.e., heterozygous) for the intragenic microsatellite in gene IRF-1 and in loci D7S486, D7S515 and D7S522 were 66.6, 73.7, 75.5, and 48.8%, respectively. Cytogenetic abnormalities by G-banding were found in 36% (16/44) of the patients (2 of 18 MDS and 14 of 26 AML patients). We found a significantly positive association of the occurrence of LOH with abnormal karyotype (P < 0.05; chi-square test) and there were cases with LOH but the karyotype was normal (by G-banding). These data indicate that LOH in different microsatellite markers is possibly an event previous to chromosomal abnormalities in these myeloid neoplasias.Escola Paulista de Medicina Universidade Federal de São Paulo (UNIFESP) Disciplina de Hematologia e HemoterapiaEscola Paulista de Medicina Universidade Federal de São Paulo (UNIFESP) Disciplina de Anatomia PatológicaEscola Paulista de Medicina Universidade Federal de São Paulo (UNIFESP) Imunologia e ParasitologiaUNIFESP, EPM, EPM, Disciplina de Hematologia e HemoterapiaEscola Paulista de Medicina EPM, Disciplina de Anatomia PatológicaEscola Paulista de Medicina EPM, Imunologia e ParasitologiaSciELOFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Associação Brasileira de Divulgação CientíficaUniversidade Federal de São Paulo (UNIFESP)Pinheiro, Ronald Feitosa [UNIFESP]Serio, Francine Menotti [UNIFESP]Silva, Maria Regina Regis da [UNIFESP]Briones, Marcelo Ribeiro da Silva [UNIFESP]Chauffaille, Maria de Lourdes Lopes Ferrari [UNIFESP]2015-06-14T13:38:38Z2015-06-14T13:38:38Z2008-07-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion610-614application/pdfhttp://dx.doi.org/10.1590/S0100-879X2008000700010Brazilian Journal of Medical and Biological Research. Associação Brasileira de Divulgação Científica, v. 41, n. 7, p. 610-614, 2008.10.1590/S0100-879X2008000700010S0100-879X2008000700010.pdf0100-879XS0100-879X2008000700010http://repositorio.unifesp.br/handle/11600/4474ark:/48912/00130000136zhengBrazilian Journal of Medical and Biological Researchinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2024-07-29T18:05:57Zoai:repositorio.unifesp.br/:11600/4474Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-12-11T20:52:57.573710Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.none.fl_str_mv |
Association of loss of heterozygosity with cytogenetic abnormalities in acute myeloid leukemia and myelodysplastic syndrome |
title |
Association of loss of heterozygosity with cytogenetic abnormalities in acute myeloid leukemia and myelodysplastic syndrome |
spellingShingle |
Association of loss of heterozygosity with cytogenetic abnormalities in acute myeloid leukemia and myelodysplastic syndrome Pinheiro, Ronald Feitosa [UNIFESP] Myelodysplastic syndrome Acute myeloid leukemia Cytogenetic abnormalities Loss of heterozygosity |
title_short |
Association of loss of heterozygosity with cytogenetic abnormalities in acute myeloid leukemia and myelodysplastic syndrome |
title_full |
Association of loss of heterozygosity with cytogenetic abnormalities in acute myeloid leukemia and myelodysplastic syndrome |
title_fullStr |
Association of loss of heterozygosity with cytogenetic abnormalities in acute myeloid leukemia and myelodysplastic syndrome |
title_full_unstemmed |
Association of loss of heterozygosity with cytogenetic abnormalities in acute myeloid leukemia and myelodysplastic syndrome |
title_sort |
Association of loss of heterozygosity with cytogenetic abnormalities in acute myeloid leukemia and myelodysplastic syndrome |
author |
Pinheiro, Ronald Feitosa [UNIFESP] |
author_facet |
Pinheiro, Ronald Feitosa [UNIFESP] Serio, Francine Menotti [UNIFESP] Silva, Maria Regina Regis da [UNIFESP] Briones, Marcelo Ribeiro da Silva [UNIFESP] Chauffaille, Maria de Lourdes Lopes Ferrari [UNIFESP] |
author_role |
author |
author2 |
Serio, Francine Menotti [UNIFESP] Silva, Maria Regina Regis da [UNIFESP] Briones, Marcelo Ribeiro da Silva [UNIFESP] Chauffaille, Maria de Lourdes Lopes Ferrari [UNIFESP] |
author2_role |
author author author author |
dc.contributor.none.fl_str_mv |
Universidade Federal de São Paulo (UNIFESP) |
dc.contributor.author.fl_str_mv |
Pinheiro, Ronald Feitosa [UNIFESP] Serio, Francine Menotti [UNIFESP] Silva, Maria Regina Regis da [UNIFESP] Briones, Marcelo Ribeiro da Silva [UNIFESP] Chauffaille, Maria de Lourdes Lopes Ferrari [UNIFESP] |
dc.subject.por.fl_str_mv |
Myelodysplastic syndrome Acute myeloid leukemia Cytogenetic abnormalities Loss of heterozygosity |
topic |
Myelodysplastic syndrome Acute myeloid leukemia Cytogenetic abnormalities Loss of heterozygosity |
description |
Deletions on chromosomes 5 and 7 are frequently seen in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). It is assumed that these deletions indicate loss of tumor suppressor genes on these chromosomes and until these tumor suppressor genes are identified, the functional consequences of these deletions and the molecular basis of these myeloid disorders cannot be completely understood. We evaluated loss of heterozygosity (LOH) in 44 patients (18 MDS and 26 AML, diagnosed according to WHO classification criteria) at diagnosis, using a four-microsatellite marker panel: an intragenic marker on the 7th intron of gene IRF-1 of the 5q31.1 region and three markers located inside the 7q31.1 region and correlated the LOH with karyotype abnormalities. The microsatellites chosen corresponded to chromosome regions frequently deleted in MDS/AML. The samples with Q (peak area) less than or equal to 0.50 were indicative of LOH. The percent of informative samples (i.e., heterozygous) for the intragenic microsatellite in gene IRF-1 and in loci D7S486, D7S515 and D7S522 were 66.6, 73.7, 75.5, and 48.8%, respectively. Cytogenetic abnormalities by G-banding were found in 36% (16/44) of the patients (2 of 18 MDS and 14 of 26 AML patients). We found a significantly positive association of the occurrence of LOH with abnormal karyotype (P < 0.05; chi-square test) and there were cases with LOH but the karyotype was normal (by G-banding). These data indicate that LOH in different microsatellite markers is possibly an event previous to chromosomal abnormalities in these myeloid neoplasias. |
publishDate |
2008 |
dc.date.none.fl_str_mv |
2008-07-01 2015-06-14T13:38:38Z 2015-06-14T13:38:38Z |
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://dx.doi.org/10.1590/S0100-879X2008000700010 Brazilian Journal of Medical and Biological Research. Associação Brasileira de Divulgação Científica, v. 41, n. 7, p. 610-614, 2008. 10.1590/S0100-879X2008000700010 S0100-879X2008000700010.pdf 0100-879X S0100-879X2008000700010 http://repositorio.unifesp.br/handle/11600/4474 |
dc.identifier.dark.fl_str_mv |
ark:/48912/00130000136zh |
url |
http://dx.doi.org/10.1590/S0100-879X2008000700010 http://repositorio.unifesp.br/handle/11600/4474 |
identifier_str_mv |
Brazilian Journal of Medical and Biological Research. Associação Brasileira de Divulgação Científica, v. 41, n. 7, p. 610-614, 2008. 10.1590/S0100-879X2008000700010 S0100-879X2008000700010.pdf 0100-879X S0100-879X2008000700010 ark:/48912/00130000136zh |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Brazilian Journal of Medical and Biological Research |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
610-614 application/pdf |
dc.publisher.none.fl_str_mv |
Associação Brasileira de Divulgação Científica |
publisher.none.fl_str_mv |
Associação Brasileira de Divulgação Científica |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UNIFESP instname:Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP |
instname_str |
Universidade Federal de São Paulo (UNIFESP) |
instacron_str |
UNIFESP |
institution |
UNIFESP |
reponame_str |
Repositório Institucional da UNIFESP |
collection |
Repositório Institucional da UNIFESP |
repository.name.fl_str_mv |
Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
repository.mail.fl_str_mv |
biblioteca.csp@unifesp.br |
_version_ |
1818602561803911168 |