【作者】 袁婷； 王晓燕； 赖悦云； 秦亚溱； 石红霞； 黄晓军； 江倩；

【Author】 Yuan Ting;Wang Xiaoyan;Lai Yueyun;Qin Ya zhen;Shi Hongxia;Huang xiaojun;Jiang Qian;Peking University People’s Hospital,Peking University Institute of Hematology;

【机构】 北京大学人民医院北京大学血液病研究所；

【摘要】 目的探讨Ph阳性慢性髓性白血病(Ph+CML)患者在酪氨酸激酶抑制剂(TKI)治疗中出现Ph阴性克隆性染色体异常(CCA/Ph-)后发生Ph-骨髓增生异常综合征或急性髓系白血病(MDS/AML)与疾病稳定患者的临床特征。方法回顾性分析2001年5月至2017年12月收治的出现CCA/Ph-的CML患者资料。结果共收集63例在TKI治疗过程中检出CCA/Ph-的Ph+CML患者,其中7例发生Ph-MDS/AML,56例疾病稳定。与疾病稳定组相比,首次出现CCA/Ph-时,Ph-MDS/AML组患者血红蛋白(P=0.007)和PLT(P=0.006)更低,外周原始细胞比例(P<0.001)更高;当发生MDS或AML时,Ph-MDS/AML组患者的CCA/Ph-以"-7"为主(5/7,71.4%),而Ph-疾病稳定组以"+8"为多见(32/56,57.1%)。Ph-MDS/AML组患者总体预后不良,而疾病稳定组多数CCA/Ph-持续存在或有变化,大部分患者分子学反应良好,疾病稳定。结论 CML患者接受TKI治疗中,少数会发生CCA/Ph-,其中大部分病情稳定,极少数会发生Ph-MDS/AML。当出现不明原因血细胞减少或CCA/Ph-为"-7"时,应重视外周血涂片、骨髓细胞遗传学和骨髓形态学检测。更多还原

【Abstract】 Objective To compare the clinical features between the 2 cohorts developing myelodysplastic syndrome or acute myeIogenous Ieukemia in Philadelphia chromosome-negative cells(Ph-MDS/AML) and maintaining disease stable in the patients with Philadelphia chromosome-positive chronic myeloid Ieukemia(Ph+CML) who had clonal chromosomal abnormalities in Philadelphia chromosome-negative metaphases(CCA/Ph-) during tyrosine kinase inhibtor(TKI)-therapy. Methods we analyzed retrospectively of Ph+CML patients who developed CCA/Ph-during TKI-therapy from May 2001 to December 2017. Results Data of 63 patients with CCA/Ph-were collected, including 7 progressing to Ph-MDS/AML and 56 remaining disease stable. Compared with those with stable disease, patients with Ph-MDS/AML had lower hemoglobin(p=0.007) and platelet(p=0.006) counts, and higher proportion of peripheral blasts(p<0.001) when the first time CCA/Ph-was detected, and more mosonomy 7 abnormality(5/7, 71.4%) when MDS or AML was diagnosed, while, trisomy 8(32/56, 51.7%) was more common in those with stable disease. Outcome of the patients with Ph-MDS/AML were poor. However, most of those with CCA/Ph-and stable disease had optimal response on TKI-therapy. Conclusions A few patients with Ph+CML developed CCA/Ph-during TKI-therapy, most of them had stable disease, but very few patients developed Ph-MDS/AML with more common occurrence of monosomy 7 or unknown cytopenia. Our data suggested the significance of monitoring of peripheral blood smear, bone marrow morphology and cytogenetic analysis once monosomy 7 or unknown cytopenia occurred.更多还原