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1.
Rev. bras. hematol. hemoter ; 35(5): 369-371, 2013. graf
Article Dans Anglais | LILACS | ID: lil-694069

Résumé

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.


Sujets)
Humains , Lymphocytes B , Enfant , /génétique , Amplification de gène , Hybridation fluorescente in situ , Leucémie aigüe biphénotypique , Leucémie lymphoïde , Leucémie-lymphome lymphoblastique à précurseurs B et T , Leucémie-lymphome lymphoblastique à précurseurs T , Facteurs de transcription
2.
Genet. mol. biol ; 28(1): 40-43, Jan.-Mar. 2005. ilus, tab
Article Dans Anglais | LILACS | ID: lil-399613

Résumé

Alterations involving the short arm of chromosome 17 (17p) during the progression of chronic myeloid leukemia (CML) have been described. This chromosomal region contains the tumor suppressor gene TP53 that may be an important factor in the evolution of this disease. In this study, we used flow cytometry and western blotting to assess p53 protein expression and single stranded conformational polymorphism to examine TP53 gene alterations in three patients with CML who showed alterations in 17p. Only the case with del(17)(p11) had p53 expression positive by flow cytometry and an abnormal migration pattern by SSCP analysis. The importance of the correlation between the results obtained with these techniques, as well as the clinical course of the patients, are discussed.


Sujets)
Humains , Aberrations des chromosomes , Leucémie myéloïde chronique BCR-ABL positive , Cytométrie en flux , Leucémie myéloïde chronique BCR-ABL positive/étiologie , Mutation , Polymorphisme de conformation simple brin
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