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

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dc.contributor.authorPinheiro, Ronald Feitosa [UNIFESP]
dc.contributor.authorSerio, Francine Menotti [UNIFESP]
dc.contributor.authorSilva, Maria Regina Regis da [UNIFESP]
dc.contributor.authorBriones, Marcelo Ribeiro da Silva [UNIFESP]
dc.contributor.authorChauffaille, Maria de Lourdes Lopes Ferrari [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2015-06-14T13:38:38Z
dc.date.available2015-06-14T13:38:38Z
dc.date.issued2008-07-01
dc.description.abstractDeletions 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.en
dc.description.affiliationEscola Paulista de Medicina Universidade Federal de São Paulo (UNIFESP) Disciplina de Hematologia e Hemoterapia
dc.description.affiliationEscola Paulista de Medicina Universidade Federal de São Paulo (UNIFESP) Disciplina de Anatomia Patológica
dc.description.affiliationEscola Paulista de Medicina Universidade Federal de São Paulo (UNIFESP) Imunologia e Parasitologia
dc.description.affiliationUnifespUNIFESP, EPM, EPM, Disciplina de Hematologia e Hemoterapia
dc.description.affiliationUnifespEscola Paulista de Medicina EPM, Disciplina de Anatomia Patológica
dc.description.affiliationUnifespEscola Paulista de Medicina EPM, Imunologia e Parasitologia
dc.description.sourceSciELO
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.format.extent610-614
dc.identifierhttp://dx.doi.org/10.1590/S0100-879X2008000700010
dc.identifier.citationBrazilian Journal of Medical and Biological Research. Associação Brasileira de Divulgação Científica, v. 41, n. 7, p. 610-614, 2008.
dc.identifier.doi10.1590/S0100-879X2008000700010
dc.identifier.fileS0100-879X2008000700010.pdf
dc.identifier.issn0100-879X
dc.identifier.scieloS0100-879X2008000700010
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/4474
dc.language.isoeng
dc.publisherAssociação Brasileira de Divulgação Científica
dc.relation.ispartofBrazilian Journal of Medical and Biological Research
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectMyelodysplastic syndromeen
dc.subjectAcute myeloid leukemiaen
dc.subjectCytogenetic abnormalitiesen
dc.subjectLoss of heterozygosityen
dc.titleAssociation of loss of heterozygosity with cytogenetic abnormalities in acute myeloid leukemia and myelodysplastic syndromeen
dc.typeinfo:eu-repo/semantics/article
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