BCR-ABL阴性骨髓增殖性肿瘤患者JAK2、CALR、MPL基因突变的临床分析

目的:研究BCR-ABL阴性骨髓增殖性肿瘤(MPN)患者JAK2V617F、CALR及MPL基因突变情况,并比较不同类型基因突变及突变均阴性患者部分临床参数的差异。方法:收集227例BCR-ABL阴性MPN患者各类型基因突变情况、相关检验结果及影像学检查。结果:JAK2V617F突变总检出率、CALR基因突变总检出率、MPL基因突变总检出率分别为71.4%,11.0%,2.6%。真性红细胞增多症(PV)患者中未检测到CALR、MPL基因突变。有1例原发性血小板增多症(ET)患者有两种基因突变共存(JAK2V617F+,CALR+)。在PV患者中,JAK2V617F突变阳性组年龄、白细胞计数、血小板计数、脾肿大发生率均高于JAK2V617F突变阴性组(均P<0.05)。在ET患者中,JAK2V617F突变阳性组年龄、白细胞计数、血红蛋白浓度均高于CALR突变阳性组及3种基因突变均阴性组,脾肿大及血栓发生率高于CALR突变阳性组;而与MPL突变阳性组相比,仅表现为血红蛋白浓度增高(P<0.05)。在原发性骨髓纤维化(PMF)患者中,仅发现JAK2V617F突变阳性组白细胞计数高于CALR突变阳性组。结论:不同MPN亚型基因突变的发生频率、分布、血栓形成风险不同,导致独特的临床表征。CALR阳性患者较JAK2V617F阳性患者更年轻、骨髓增殖水平更低、血栓事件风险更低,这提示危险分层更低、预后较好。这为MPN的诊断及个体化治疗提供证据。

年龄分层下269例Ph染色体阴性骨髓增殖性肿瘤患者临床分析

目的:探讨按年龄分层的青年组(年龄≤40岁)与中老年组(年龄>40岁)慢性骨髓增殖性肿瘤(MPN)患者临床特点的差异。方法:收集269例于本院就诊的MPN患者的临床资料,包括基因突变情况、初诊时外周血常规、影像学检查、既往病史等。结果:在原发性血小板增多症(ET)中,青年组患者三阴性比例高于中老年组患者,且青年组患者初诊时白细胞(WBC)和血小板(PLT)计数相对更低。在真性红细胞增多症(PV)患者中,JAK2V617F表达阳性率(80.65%)总体较国内外其他研究报道偏低。青年组PV患者JAK2V617F阳性率低于中老年组,且初诊时外周血WBC计数低于中老年组。所有PV患者中均未检测到CALR及MPL基因突变。在原发性骨髓纤维化(PMF)患者中,仅1例发病年龄<40岁;91.67%的患者表现有脾脏肿大,比例高于ET和PV患者。随访发现1个确诊家族性MPN家系和1个疑似家族性MPN家系,其中年龄最小的患者仅8岁,目前尚未对其进行二代基因测序检查,处于动态随访中。结论:年龄是MPN患者危险分层的重要参考指标。不同年龄和类型的MPN患者在基因突变、初诊时外周血细胞计数、罹患血栓事件、脾脏肿大等方面均存在差异。家族性MPN患者存在发病年龄逐代年轻化趋势。

Ph^(-)慢性骨髓增殖性肿瘤患者血栓事件危险因素的分析

目的:了解慢性骨髓增殖性肿瘤(MPN)患者血栓事件并发症概况,探讨患者初诊时和随访中血栓事件发生的相关危险因素。方法:收集388例于本院就诊的MPN患者的临床资料,通过门诊及电话随访追踪预后,运用统计学方法分析血栓事件的危险因素。结果:388例MPN患者中,161例(41.49%)患者在初诊时或随访中出现血栓事件,类型以动脉血栓(92.55%)为主,其中初诊时并发血栓事件患者达到146例(96.27%),314例完成随访的患者中出现新发血栓或原有血栓进展的有36例(14.88%)。多因素分析提示,年龄(P<0.001,HR:1.033,95%CI:1.016-1.051)、JAK2V617F突变(P=0.037,HR:1.72,95%CI:1.033-2.862)、高血压病(P<0.001,HR:2.639,95%CI:1.659-4.197)、高脂血症(P<0.001,HR:2.659,95%CI:1.626-4.347)是MPN患者初诊时发生血栓事件的独立危险因素。而在随访过程中,年龄(P=0.016,HR:1.032,95%CI:1.006-1.059)和既往血栓病史(P=0.019,HR:2.194,95%CI:1.135-4.242)为新发不同部位血栓或原血栓基础上发生进展的独立危险因素。结论:高龄、JAK2V617F突变或伴有高血压病、高脂血症的患者在初诊时发生血栓事件的风险更高,而高龄或存在既往血栓病史的患者则在随访过程中表现出更高的血栓事件进展风险。

Bearing mechanism of roof and rib support structure in automatically formed roadway and its support design method

Non-pillar mining technology with automatically formed roadway is a new mining method without coal pillar reservation and roadway excavation.The stability control of automatically formed roadway is the key to the successful application of the new method.In order to realize the stability control of the roadway surrounding rock,the mechanical model of the roof and rib support structure is established,and the influence mechanism of the automatically formed roadway parameters on the compound force is revealed.On this basis,the roof and rib support structure technology of confined lightweight concrete is proposed,and its mechanical tests under different eccentricity are carried out.The results show that the bearing capacity of confined lightweight concrete specimens is basically the same as that of ordinary confined concrete specimens.The bearing capacity of confined lightweight concrete specimens under different eccentricities is 1.95 times higher than those of U-shaped steel specimens.By comparing the test results with the theoretical calculated results of the confined concrete,the calculation method of the bearing capacity for the confined lightweight concrete structure is selected.The design method of confined lightweight concrete support structure is established,and is successfully applied in the extra-large mine,Ningtiaota Coal Mine,China.

慢性骨髓增殖性肿瘤JAK2V617F和CALR基因突变双表达二例报告并文献复习

慢性骨髓增殖性肿瘤(myeloproliferative neoplasms,MPN)是造血多能干细胞克隆性增殖所引起的一组疾病的统称,常表现为血细胞的质量和数量异常,同时伴有脾大、血栓形成、出血倾向等临床表现^([1-2])。MPN可根据费城染色体(Philadelphia chromosome,Ph)的表达分为Ph阳性的慢性髓系白血病(chronic myeloid leukemia,CML)和Ph阴性的MPN。现临床上的MPN多指的是原发性血小板增多症(essential thrombocythemia,ET)、真性红细胞增多症(polycythemia vera,PV)、原发性骨髓纤维化(primary myelofibrosis,PMF)3种疾病^([3])。