囊性纤维化跨膜转导调节因子与急性白血病患者临床特征及预后的关系

  目的  检测细胞囊性纤维化跨膜转导调节因子（CFTR）在急性白血病及其亚型中的表达情况，分析其与急性白血病患者的临床特征及预后的关系。  方法  纳入115例急性白血病患者为实验组，以同期体检健康者为对照组，收集其外周血或骨髓，分离单个核细胞，采用Western blot法检测细胞的CFTR蛋白相对表达量，分析CFTR蛋白表达与急性白血病患者的临床特征及预后的关系。  结果  正常人外周血单个核细胞未检测出CFTR蛋白表达，而一半以上急性白血病包括急性髓系白血病（AML）和急性淋巴细胞白血病（ALL）患者CFTR蛋白表达阳性，而急性早幼粒细胞白血病（M3）患者均未检测到CFTR蛋白阳性表达。在AML患者中，CFTR蛋白表达阳性和阴性患者在外周血白细胞计数（WBC）、外周血原始细胞数、血小板（PLT）和血红蛋白（HGB）等方面差异无统计学意义，也与NPM1、CEBPA、FLT3-ITD、C-Kit等基因突变无相关性，CFTR蛋白阴性患者2疗程完全缓解（CR）率略高于阳性患者，生存期略长于阳性患者，但差异无统计学意义。在ALL患者中，CFTR蛋白与患者的临床特征及预后均无关。  结论  本研究尚未发现CFTR蛋白与急性白血病患者临床特征、治疗反应及预后有相关性。

Relationship of Cystic Fibrosis Transmembrane Conductance Regulator Expression with Clinical Features and Prognosis in Patients with Acute Leukemia

  Objective  To investigate the expression of cystic fibrosis transmembrane conductance regulator (CFTR) protein in patients with acute leukemia and its relationship to clinical features and prognosis of acute leukemia.  Methods  A total of115 patients with acute leukemia were enrolled in the experimental group and 20 healthy individuals were used as control. Peripheral blood or bone marrow samples were collected, and mononuclear cells were isolated. The expression of CFTR protein was detected by Western blot. The relationships of CFTR protein expression to clinical features and prognosis was analyzed.  Results  The expression of CFTR protein was not detected in peripheral blood mononuclear cells of normal control, while it was positive in more than half of acute leukemias including acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL), but negative in the patients with acute promyelocytic leukemia (M3). In the patients with AML, there was no difference in peripheral white blood cells (WBC), peripheral blast cells, platelet and hemoglobin (HGB) between CFTR-positive and CFTR-negative patients. There was no relationship between the expression of CFTR protein and gene mutations such as NPM1, CEBPA, FLT3-ITD, and C-Kit. Complete remission (CR) rate after two course in CFTR-negative patients was slightly higher than that in positive patients. The survival time of CFTR-negative patients was little longer than that of positive patients, but the difference was not statistically significant.  Conclusions  The expression of CFTR protein seems not associated with clinical features, treatment response and prognosis in the patients with acute leukemia