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Cancer Genet Cytogenet ; 54(2): 247-52, 1991 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-1884359

RESUMO

A case of chronic myelogenous leukemia (CML) is described whose leukemic cells appeared to contain two Philadelphia (Ph) chromosomes originating from different translocations involving the two chromosomes 22. The karyotype of the affected cells, established on two different occasions, was: 46,XY,t(9;22)(q34;q11),t(15;22)(p11;q11) with no normal chromosomes 22 and only one 9q+ in each of 115 marrow cells examined. The same findings were present in 50 peripheral blood cells cultured without phytohemagglutinin (PHA) stimulation. When stimulated with PHA, a normal male karyotype was present in the 11 cells examined. There were no additional chromosomal abnormalities and no indication of a blastic crisis after nearly 1 year following the original study. Analysis of the breakpoint cluster region (bcr) on chromosome 22 in the DNA of the affected cells (marrow) revealed evidence for one rearranged chromosome 22 and one normal chromosome 22, indicating that the t(15;22) was not due to the usual Ph translocation seen in CML. The results point to the crucial usefulness of molecular analysis in confirming cytogenetic results related to Ph translocations in CML.


Assuntos
Aberrações Cromossômicas/genética , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Proteínas Tirosina Quinases , Adulto , Southern Blotting , Bandeamento Cromossômico , Transtornos Cromossômicos , Sondas de DNA , DNA de Neoplasias/genética , Humanos , Masculino , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas c-bcr , Translocação Genética
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