Association of loss of heterozygosity with cytogenetic abnormalities in acute myeloid leukemia and myelodysplastic syndrome

Detalhes bibliográficos
Autor(a) principal: Pinheiro, Ronald Feitosa [UNIFESP]
Data de Publicação: 2008
Outros Autores: Serio, Francine Menotti [UNIFESP], Silva, Maria Regina Regis da [UNIFESP], Briones, Marcelo Ribeiro da Silva [UNIFESP], Chauffaille, Maria de Lourdes Lopes Ferrari [UNIFESP]
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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spelling 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
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