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- W2936005881 abstract "<i>BCR-ABL1</i>-negative myeloproliferative disorders and chronic myeloid leukaemia are haematologic malignancies characterised by single and mutually exclusive genetic alterations. Nevertheless, several patients co-expressing the <i>JAK2</i><sup>V617F</sup> mutation and the <i>BCR-ABL1</i> transcript have been described in the literature. We report the case of a 61-year-old male who presented with an essential thrombocythaemia phenotype and had a subsequent diagnosis of chronic phase chronic myeloid leukaemia. Colony-forming assays demonstrated the coexistence of 2 different haematopoietic clones: one was positive for the <i>JAK2</i><sup>V617F</sup> mutation and the other co-expressed both <i>JAK2</i><sup>V617F</sup> and the <i>BCR-ABL1</i> fusion gene. No colonies displayed the <i>BCR-ABL1</i> transcript alone. These findings indicate that the <i>JAK2</i><sup>V617F</sup> mutation was the founding genetic alteration of the disease, followed by the acquisition of the <i>BCR-ABL1</i> chimeric oncogene. Our data support the hypothesis that a heterozygous <i>JAK2</i><sup>V617F</sup> clone may have favoured the bi-clonal nature of this myeloproliferative disorder, generating clones harbouring a second transforming genetic event." @default.
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- W2936005881 date "2019-01-01" @default.
- W2936005881 modified "2023-10-17" @default.
- W2936005881 title "Colony-Forming Cell Assay Detecting the Co-Expression of JAK2V617F and BCR-ABL1 in the Same Clone: A Case Report" @default.
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- W2936005881 doi "https://doi.org/10.1159/000496821" @default.
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