慢性髓系白血病首发血小板显著增多论文.docVIP

　　慢性髓系白血病首发血小板显著增多论文 .freelia Onset bocythemia Abstract This study ed to investigate the clinical，pathological and biological features of a special case of chronic myeloid leukemia (CML) arked thrombocythemic onset. The morphological changes of cells arroear and biopsy; Ph chromosome，a specific marker of CML，osomal analysis and fluorescence in situ hybridization，bcr/abl fusion gene erase chain reaction. The results indicated that CML mimicked essential thrombocythemia (ET) at presentation ight be misdiagnosed as ET，bone marroear 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 aller than normal ones and had typically hypolobulated round nuclei.Patients diagnosed as Ph+ ET might progress into CML and shoyelofibrosis and blastic transformation. It is concluded that the value of routine cytogeical and molecular biological analysis in diagnosis for potential CML cases，imicked 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 produced by the Philadelphia chromosome.Every case of “ET” should be tested for the Philadelphia chromosome and bcr/abl transcript. Key bocythemia； chronic myeloid leukemia； Ph chromosome； bcr/abl fusion gene 原发性血小板增多症（essential thrombocythemia，ET）和慢性髓系白血病（CML）属于骨髓增殖性疾病(myeloproliferative disorder，MPD)家族，但两者发病时的表现通常不同，自然病程也不同。最新的资料表明，每个拟诊ET的病例必须进行Ph染色体的分析［1］。世界卫生组织（L的鉴别诊断非常重要，且对采用Ph染色体基因产物靶向治疗的有效性更具指导意义。本研究通过实例探讨以血小板显著增多为主要表现CML的细胞遗传学和分子生物学特征，从而提高对ET及CML的认识，以免误诊、误治。 材料和方法 病例 患者，女，34岁。因“发现血小板增多2月，头昏、乏力2天”，于2005年5月收治入院。患者2月前因腰痛、双手指瘙痒在外院就诊。当时血常规检查显示： I 1640培养液，37℃恒温箱放置24小时；② 加入秋水仙碱，终浓度为0.05 μg/ml，于37℃放置1小时；③ 离心： 200×g×10分钟，弃上清液；④ 低渗：加入预温至37℃的0.075 mol/L KCl液8 ml，轻轻打匀，于37℃放置30分钟；⑤ 预固定：加入1 ml固定液轻轻