Department of Medicine, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia.
Int J Hematol. 2010 Jan;91(1):136-9. doi: 10.1007/s12185-009-0471-6. Epub 2010 Jan 5.
The co-occurrence of JAK2 V617F mutation with BCR-ABL reciprocal translocation is uncommon. We report a 60-year-old man who initially presented with phenotype of polycythemia vera (PV), which evolved into chronic myeloid leukemia and back to PV once treatment with imatinib was commenced. JAK2 V617F mutation and BCR-ABL fusion transcripts were detected in the initial sample. However, JAK2 V617F alleles diminished when BCR-ABL mRNA burden increased and reappeared once the patient was commenced on imatinib. The dynamic interaction between JAK2 V617F and BCR-ABL implies that two independent clones exist with the JAK2 V617F clone only achieving clonal dominance when BCR-ABL positive clones are suppressed by imatinib.
JAK2 V617F 突变与 BCR-ABL 相互易位的同时发生并不常见。我们报告了一例 60 岁男性，最初表现为真性红细胞增多症（PV）的表型，在开始使用伊马替尼治疗后，病情演变为慢性髓系白血病，然后又回到 PV。在初始样本中检测到 JAK2 V617F 突变和 BCR-ABL 融合转录本。然而，当 BCR-ABL mRNA 负担增加时，JAK2 V617F 等位基因减少，一旦患者开始使用伊马替尼，就会重新出现。JAK2 V617F 和 BCR-ABL 之间的动态相互作用表明存在两个独立的克隆，只有当伊马替尼抑制 BCR-ABL 阳性克隆时，JAK2 V617F 克隆才会获得克隆优势。
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