慢性髓系白血病首发血小板显着增多.docVIP

慢性髓系白血病首发血小板显着增多 作者：沈群，周建伟，朱光荣，杨月艳，仇海荣，朱广荣，夏雯，姜鹏君 【摘要】? 本研究探讨以血小板显着增多首发的慢性髓系白血病 CML 临床、细胞遗传学及分子生物学特征。应用骨髓细胞涂片、骨髓活检观察细胞形态学改变；RT-PCR检测bcr/abl融合基因；常规染色体核型分析及FISH检测细胞遗传学变化。结果发现：以血小板显着增多为首发表现的CML是一组具有独特临床和生物学特点的疾病，骨髓细胞涂片和骨髓活检表明，骨髓增生活跃，以巨核系异常增生为主，血小板大片成堆，可见圆形核小巨核细胞，中等度白细胞增多，经细胞遗传学和分子生物学检测均证实存在有Ph染色体和（或）表达bcr/abl融合基因，对此类患者应该早期进行积极治疗，甚至进行分子生物学水平的干预；而原发性血小板增多症（ET）患者则不宜过多地使用化疗药物，否则反而诱致白血病的发生。结论：对血小板明显增多的患者应及时进行Ph染色体及bcr/abl融合基因表达水平的检测，这对于ET及CML的诊断和鉴别诊断极为重要，以避免误诊、误治。 【关键词】? 原发性血小板增多症 　　Chronic Myeloid Leukemia Onset with Marked Thrombocythemia 　　Abstract? This study? was aimed to? investigate? the clinical，pathological and biological features of a special case of chronic myeloid leukemia? CML ? with marked thrombocythemic?? onset. The morphological changes of cells were analyzed by using? bone marrow smear and biopsy; Ph chromosome，a? specific marker of CML，was assayed by conventional chromosomal analysis and fluorescence in situ? hybridization，bcr/abl fusion gene was detected by reverse transcription-polymerase chain reaction. The results? indicated that?? CML mimicked essential thrombocythemia ET at presentation was relatively rare and might be misdiagnosed as ET，bone marrow smear and biopsy revealed，marked thrombocytosis and moderate leukocytosis;? RT-PCR，FISH and conventional chromosomal analysis demonstrated the?? existance of? Ph chromosome and bcr/abl fusion gene.This special CML? could progress into accelerated phase or blast crisis.The megakaryocytes in Ph+ ET were smaller than normal ones and had typically hypolobulated round nuclei.Patients diagnosed as Ph+ ET might progress into CML and showed a high tendency to myelofibrosis and blastic transformation. It is concluded that? the value of routine cytogenetical and molecular biological analysis in diagnosis for potential CML cases，which mimicked ET as in this presentation，is very distinctive，and the importance is magnified by the recent availability of imatinib，a specific inhibitor of the bcr/abl tyrosine kinase p