具有JAK2V617F突变的原发性血小板增多症转化为急性髓系白血病1例并文献复习

患者,男,53岁,因发现脾大(B超12.6 cm×5.0 cm)7个月于2005年4月8日就诊于我科.查体未发现异常.血常规:白细胞(WBC)10.5×109/L,血红蛋白(Hb)149 g/L,血小板(Plt)1 314×109/L;骨髓象:有核细胞增生活跃,粒红两系正常,巨核细胞63只,血小板成堆可见;BCR/ABL融合基因阴性,诊断为原发性血小板增多症(ET).     

骨髓增殖性肿瘤治疗进展:第56届美国血液学会年会报道

近年对bcr-abl阴性的骨髓增殖性肿瘤的发病机制、诊断、风险分层及治疗等方面的研究取得了长足进展,文章就2014年第56届美国血液学会(ASH)年会上关于bcr-abl阴性的骨髓增殖性肿瘤治疗进展等内容作一介绍.     

中枢神经系统非霍奇金淋巴瘤的诊治

中枢神经系统淋巴瘤(CNSL)是一种少见的淋巴组织或结外淋巴瘤,多发生于非霍奇金淋巴瘤(NHL)。由于NHL的发生率有逐年上升的趋势,加之CNSL的临床表现不典型性和复杂多变的特点,极易造成误诊误治。因此,提高中枢神经系统非霍奇金淋巴瘤的诊治水平备受临床医生的关注。1CNSL的发病情况。根据CNSL的初始发病情况,分为原发性中枢神经系统淋巴瘤(primarycentralnervoussystemlymphoma,PC NSL)和继发性中枢神经系统淋巴瘤(secondarycentralner voussystemlymphoma,SCNSL)两种。前者是以中枢神经系统为首发受累,而无全身其它淋巴结或淋…     

白血病细胞株KG-1中Mxi1基因突变的检测和表达载体的构建

目的检测白血病细胞株KG-1中Mxil基因SID和bHLHzip区突变情况并构建Mxil基因的野生型和突变型真核表达载体,观察其转染真核细胞后基因表达的情况。方法应用RT-PCR和SSCP分析KG-1细胞株Mxil基因的突变,将Mxil野生型/突变型基因cDNA插入到pDs-red2-N1质粒中,构建pDs-red2-N1/Mxil(野生型/突变型)真核表达载体,采用脂质体方法将质粒转染COS-7细胞,流式细胞仪检测红色荧光蛋白表达并计算转染效率。RT-PCR检测转染后Mxil基因的表达。结果 Mxil基因突变位于HelixⅡ区第82编码子的CAT/TAT(His/Tyr)。成功构建pDs-red2-N1/Mxil(野生型/突变型)真核表达载体,经酶切、电泳可以看到在4 700、1845 bp存在两条电泳条带,Mxil基因在COS-7细胞中得到表达,转染后COS-7细胞红色荧光蛋白表达的阳性细胞为18.07%,表达高峰出现在转染后第3天,并可持续表达6d左右。结论 Mxil基因的高度保守区域bHLHzip存在基因突变,Mxil突变基因的真核表达载体构建成功,并成功转染真核细胞COS-7。     

nm23-H1在急性白血病患者血浆中的表达及其临床意义

目的检测分化抑制因子nm23-H1蛋白在急性白血病（AL）患者血浆中的表达水平，探讨其临床意义。方法采用酶联免疫吸附法测定nm23-H1蛋白在100例AL患者和30例健康志愿者（对照组）血浆中的水平。结果nm23-H1在初治AL患者中明显高于健康志愿者，在急性髓系白血病各亚型中M。患者的nm23-H1血浆水平最高，M3患者水平最低。持续完全缓解的AL患者nm23-H1血浆水平与对照组无统计学差异。结论nm23-H1血浆蛋白水平可能是判断AL患者预后的一种标志。     

石棉沉积与肺癌病理

1930年中期首次认为石棉能引起肺癌以来,到1968年才提出石棉与吸烟共同作用诱发肺癌比单独作用为高。吸烟与肺癌的关系现已明确,试图从单独与吸烟相关肺癌中找出石棉相关肺癌的鉴别标准。作者对75例(年龄35～82岁)原发性肺癌患者,进行电子—光学方法检查肺内的石棉纤维,并进行分型和定量,除8例男性患者外,其他患者均有石棉接     

氟马替尼与伊马替尼治疗初发慢性髓性白血病慢性期患者的有效性及严重血液学不良反应发生率比较

目的比较氟马替尼与伊马替尼治疗初发慢性髓性白血病(CML)慢性期患者的治疗反应、结局以及严重血液学不良反应发生率。方法回顾性收集来自国内76个中心自2006年1月至2022年11月期间确诊、年龄≥18岁、确诊后6个月内接受氟马替尼或伊马替尼作为一线治疗且临床资料相对完整的CML慢性期病例。通过倾向性评分匹配(PSM)减少一线酪氨酸激酶抑制剂(TKI)药物选择偏倚, 比较两种TKI的治疗反应及结局。结果研究最终纳入4 833例接受伊马替尼(4 380例)和氟马替尼(453例)作为一线治疗的成人CML慢性期患者。伊马替尼治疗组中位随访54(IQR:31～85)个月, 7年完全细胞遗传学反应(CCyR)、主要分子学反应(MMR)、分子学反应4(MR4)和分子学反应4.5(MR4.5)累积获得率分别为95.2%、88.4%、78.3%和63.0%。7年无治疗失败生存(FFS)率、无进展生存(PFS)率和总生存(OS)率分别为71.8%、93.0%和96.9%。氟马替尼治疗组中位随访18(IQR:13～25)个月, 2年CCyR、MMR、MR4和MR4.5累积获得率分别为95.4%、86.5%、...     

IL-10基因单核苷酸多态性与急性淋巴细胞白血病易感性的相关性研究

Objective To observe the relationship of IL-10 gene single nucleotide polymorphism and the susceptibility to ALL. Methods The bone marrow and peripheral blood samples from 115 ALL patients and 323 healthy controls were collected in Peking University First Hospital and Beijing Dao-pei Hospital from January 2007 to December 2009. The DNA were extracted from all samples. The primers of -819C/T and -592A/C in the promoter region of IL-10 gene were designed for the PCR. The restrictive fragment length polymorphism of IL-10 gene was analyzed by using restrictive enzyme Msl Ⅰ and HpyCH4 Ⅲ.Sequencing was done in part of these samples to confirm the results of PCR. The differences of genotypes and allele ratio of -819 and -592 sites were analyzed between the ALL patients and healthy controls. Real-time quantitative PCR was performed to detect the EB virus (EBV) infection and the expression of BCR/ABL fusion gene. The differences of genotypes and allele ratio of -819 and -592 sites were analyzed between the positive and negative group. Results The genotype ratios of -819CC, -819TT, - 819CT, -592AA,- 592CC and - 592AC were 14. 8% ( 17/115 ), 45.2% ( 52/115 ), 40. 0% ( 46/115 ), 43.5% ( 50/115 ),16. 5% ( 19/115 ), 40. 0% ( 46/115 ) in ALL patients, and were 9. 9% ( 32/323 ), 16. 4% ( 53/323 ),73.7% ( 238/323 ), 11.8% ( 38/323 ), 15.5% ( 50/323 ), 72. 8% ( 235/323 ) in the healthy controls,respectively. The genotypes of -819 and -592 sites had statistically significant differences between the two groups(x2 values were 46.000 and 54.550, all P ＜ 0. 05 ). The allele ratio of -819T and -592A were (65.2%, 150/230) and (63.5%, 146/230) in ALL patients, while they were 53.5% (344/646) and 48. 1% (311/646)in the healthy controls. There were statistically significant differences between the two groups (x2 values were 9. 877 and 15.986, all P ＜ 0. 05 ). The EBV DNA were detected in 42 ALL patients,among which 22 were positive and 20 were negative. The genotype ratios of -819CC, -819TT, -819CT,-592AA, - 592CC, - 592AC in EBV positive group were 9. 1% ( 2/22 ), 40. 9% ( 9/22 ), 50. 0%(11/22) ,31.8% ( 7/22 ), 13.6% ( 3/22 ), 54. 5% ( 12/22 ), while they were 35.0% ( 7/20 ), 45.0%(9/20) ,20. 0% (4/20) ,35.0% (7/20) ,45.0% (9/20) ,20. 0% (4/20) in the EBV negative group. The genotypes of -819 and -592 sites showed no statistical differences between the two groups( all P ＞ 0. 05 ).The BCR/ABL fusion gene were detected in 36 ALL patients, among which 20 were positive and 16 were negative. The genotype ratios of - 819CC, - 819TT, - 819CT, - 592AA, - 592CC, - 592AC in BCR/ABL positive group were 0% (0/20) ,45.0% (9/20) ,55.0% ( 11/20), 45. 0% (9/20) ,5.0% (1/20) ,50. 0%( 10/20), while they were 18. 8% ( 3/16 ), 50. 0% ( 8/16), 31.3% ( 5/16 ), 50. 0% ( 8/16 ), 18. 8%(3/16), 31.3 % (5/16)in the BCR/ABL negative group. The genotypes of -819 and -592 sites showed no statistical differences between the two groups ( all P ＞ 0. 05 ). Conclusion The population with - 819TT and - 592AA genotype of IL-10 gene shows susceptibility to ALL.     

JAK2 V617F点突变的研究进展及其与ETS2 mRNA表达的相关性

慢性骨髓增殖性疾病（cMPDS）是一组造血于细胞克隆性疾病，在骨髓细胞普遍增生的基础上，某一个系列细胞增生尤其突出，呈持续不断的过度增殖。世界卫生组织（WHO）最新关于cMPDs分类包括如下7类：慢性粒细胞性白血病（CML）、慢性中性粒细胞白血病（CNL）、嗜酸细胞性白血病（CEL）和高嗜酸细胞综合征（HES）、真性红细胞增多症（PV）、特发性骨髓纤维化（IMF）、