Abstract: |
A patient with BCR/ABL negative myeloproliferative syndrome with a 46,XY,del(3)(q21), t(4;15)(p16;q24) karyotype is described. Fluorescence in situ hybridization performed with chromosomes 4 and 15 painting probes confirmed a novel reciprocal (4;15) translocation. The absence of crkI tyrosine phosphorylation, no activation of the abl kinase as measured by autophosphorylation, and a normal-size abl transcript suggest an alternative mechanism for leukemogenesis to that operative in Ph positive BCR/ABL positive chronic myeloid leukemia. A number of genes potentially relevant to tumorigenesis, some involving the ras signaling pathway, map to the 4p16 and 15q24 chromosome regions. |
Keywords: |
adult; protein phosphorylation; middle aged; myeloproliferative disorders; human cell; myeloproliferative disorder; case report; enzyme activation; enzyme activity; phosphorylation; blotting, western; fluorescence in situ hybridization; disease progression; leukemogenesis; translocation, genetic; bcr abl protein; fusion proteins, bcr-abl; chromosome painting; reciprocal chromosome translocation; chromosome 15q; chromosomes, human, pair 15; chromosomes, human, pair 4; acute-phase reaction; chromosome 4p; humans; human; male; priority journal; article
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