慢性淋巴细胞增殖性疾病(chronic lymphopro-liferative disorders,CLPD)是以成熟淋巴细胞克隆性增殖为特征的一组恶性疾病,分为B和T细胞系2大类.本文报道2例T细胞CLPD患者,均以贫血为首发表现,病例2伴有单克隆异常浆细胞. 病例资料 例1 患者男,70岁.因活动后乏力3个月,贫血半个月就诊.患者3个月前无明显诱因出现活动后乏力,伴面色苍白,无发热、咳嗽咳痰、心慌胸闷、腹痛、腹泻等不适,未予重视,后症状逐渐加重,半个月前就诊于武汉某大医院查血常规:WBC 1.57×109/L,Hb 43 g/L,PLT 237×109/L.叶酸、维生素B12水平正常.骨髓细胞学结果:①幼粒细胞比值增高,幼红细胞比值偏低.②骨髓增生异常综合征(myelodysplastic syndrome,MDS)待排,请结合临床.

多发性骨髓瘤(multiple myeloma,MM)继发系统性淀粉样变性(AL amyloidosis),AL型淀粉样变性患者早期表现隐匿,临床上难以识别及诊断.以硼替佐米为代表的蛋白酶抑制剂联合CD38单抗[达雷妥尤单抗,Daratumumab(DARA)]化疗可效清除患者体内异常浆细胞,降低轻链含量,为后期自体造血干细胞移植奠定基础.华中科技大学同济医学院附属同济医院收治1例MM合并AL型淀粉样变性患者,治疗效果良好,报道如下并进行文献复习.

目的 探讨非血缘脐血移植联合DCAG方案治疗急性髓系白血病(AML)中初次诱导治疗的疗效观察.方法 回顾性分析接受非血缘脐血移植联合DCAG方案治疗14例AML患者的临床资料.中位年龄57(45～66)岁,FAB分型:M15例、M22例、M55例、MDS转化AML 2例.所有患者均采用地西他滨联合CAG方案诱导化疗.结果 14例AML患者中有11例患者通过脐血移植联合化疗均获得完全缓解,1例获得部分缓解,2例未缓解.骨髓抑制期显著缩短.结论 非血缘脐血移植联合DCAG化疗显著提高AML缓解率,缩短骨髓抑制期.

目的:探讨伊布替尼治疗B细胞恶性肿瘤诱发噬血细胞综合征（HPS）的临床特征，提高对伊布替尼诱发HPS的认识。方法:回顾性分析1例弥漫大B细胞淋巴瘤（DLBCL）患者经伊布替尼治疗后诱发HPS的诊疗经过，并进行文献复习。结果:该患者接受伊布替尼治疗后第8天诱发HPS，病情迅速恶化。结论:伊布替尼不能精准抑制布鲁顿酪氨酸激酶抑制剂，存在脱靶效应，可抑制T细胞激酶，具有潜在有害性突变的DLBCL患者在接受伊布替尼治疗时应意识到诱发HPS这一潜在并发症。

[目的]探讨颅内生殖细胞肿瘤的初次临床诊断特征,以期提高肿瘤的初次诊断率.[方法]收集华中科技大学同济医学院附属同济医院于2012年1月至2017年12月期间,诊断为颅内生殖细胞肿瘤的42例患者临床资料,分析其临床表现、组织类型、病理类型和影像学资料,研究治疗前临床诊断的特点.[结果]42例颅内生殖细胞肿瘤患者中,40例初次临床诊断为肿瘤相关性病变,包括19例影像学诊断(47.50％)、14例临床表现诊断(35.00％)、7例辅助检测诊断(17.50％);影像学诊断生殖细胞性肿瘤的敏感性为45.24％.[结论]对于出现特异性临床表现的青少年患者,应结合异常血清学指标,辅助中枢神经系统影像学特征,进行综合诊断,可提高颅内生殖细胞肿瘤的初次诊断率.

[目的]探讨Wip1基因在脑胶质瘤U87‐M G细胞增殖侵袭中的作用及其机制.[方法]选取脑胶质瘤U87‐M G细胞,随机分为对照组,空白转染组和Wip1沉默组.空白转染组转染空白质粒,Wip1沉默组转染Wip1 RNA干扰质粒;采用M T T法检测各组细胞增殖情况,DAPI细胞核染色检测各组细胞凋亡,T ran‐swell法检测各组细胞侵袭能力,Western blot检测Wip1 、p53和p‐p53蛋白表达量.[结果]Wip1沉默组培养48 h 、72 h的OD值明显低于对照组和空白转染组,差异有统计学意义( P ＜0 .05) . Wip1沉默组细胞凋亡率为(42 .19 ± 7 .28)% 明显高于对照组[(5 .82 ± 1 .01)%]和空白转染组[(6 .01 ± 0 .98)%] ,差异有统计学意义( F＝23 .92 ,P ＜0 .05) . Wip1沉默组细胞侵袭数为(22 .19 ± 7 .28)个明显低于对照组(101 .02 ± 1 .01)个和空白转染组(98 .89 ± 6 .83)个,差异有统计学意义( F ＝54 .38 ,P ＜0 .05 ) . Wip1沉默组Wip1蛋白表达量明显低于对照组和空白转染组,p53和p‐p53蛋白表达量明显高于对照组和空白转染组( P ＜0 .05 ) .[结论]Wip1基因表达与脑胶质瘤U87‐M G细胞增殖、凋亡及侵袭能力有关,其机制可能涉及p53调节.

目的:探讨抗PD-1抗体治疗恶性淋巴瘤导致的少见不良反应.方法:收集使用过抗PD-1抗体的肿瘤患者的临床资料,分析这些患者发生不良反应的情况,从中筛选出少见的不良反应病例.结果:华中科技大学同济医学院附属同济医院3年间有157例肿瘤患者使用抗PD-1抗体治疗,大部分不良反应较轻无需治疗,其中4例患者发生少见不良反应,分别为免疫性脑炎、心肌炎、垂体功能紊乱和间质性肺炎.通过复习文献,考虑上述不良反应为抗PD-1抗体所致的免疫相关不良反应.结论:临床工作中需要警惕抗PD-1抗体可能导致的少见不良反应,尽早诊断和治疗,将不良反应的危害降至最低.

Objective To investigate the clinical characteristics and outcome of T-cell acute lymphoblastic leukemia (T-ALL) with SIL-TAL1 rearrangement.Methods 62 newly diagnosed T-ALL patients including 15 patients with SIL-TAL1 rearrangement were systemically reviewed.Results Compared with SIL-TAL1-T-ALL patients,SIL-TAL1 + T-ALL patients was characterized by higher white blood cell count (P =0.029) at diagnosis,predominant cortical T-ALL immunophenotype (P =0.028) of the leukemic blasts,a higher prevalence of acute tumor lysis syndrome (P ＜ 0.001) and disseminated intravascular coagulation (P ＜ 0.001),which led to a higher early mortality (26.7 ％ (4/15) vs 4.3 ％ (2/47),P =0.011).Compared with SIL-TAL1-patients,SIL-TAL1+ patients had shorter relapse free survival (2 months vs 12 months,P =0.007) and overall survival (4 months vs 25 months,P =0.002).Conclusion SIL-TAL1 rearrangement identifies a distinct subtype with inferior outcome which could allow for individual therapeutic stratification for T-ALL patients.

目的:克隆斑马鱼Gfi1.1基因的全长cDNA,运用T7 RNA聚合酶对含有Gfi1.1基因的ORF区进行体外转录,在体外合成5端带有帽子结构的Gfi1.1 mRNA分子,为后续研究斑马鱼Gfi1.1基因的功能打下基础.方法:应用RT-PCR从斑马鱼组织中扩增出Gfi1.1cDNA片段,经回收纯化与pGM-T载体连接并转化感受态细菌DH-5α,通过蓝白筛选酶切鉴定阳性菌落,小量提取质粒,Nde Ⅰ限制性内切酶线性化pGM-T-Gfi1.1质粒,运用T7 RNA聚合酶对Gfi1.1基因进行体外转录及加帽.经凝胶电泳对目的片段进行鉴定.结果:RT-PCR扩增获得约1.2 kb的DNA片段,DNA序列分析的结果与GenBank上的序列(NM_001020776)一致,酶切线性化及体外转录加帽pGM-T-Gfi1.1,凝胶电泳鉴定RNA分子大小与预期完全一致.结论:成功克隆斑马鱼Gfi1.1基因并体外转录及加帽pGM-T-Gfi 1.1.

Objective To construct the jak2awt vector and make it overexpress in the zebrafish and then to examine the effect of such overexpression on erythroid hematopoiesis by using O-dianisidine staining in an attempt to lay a foundation for following investigation of the signal pathway of Jak/Stat in myeloproliferative disorder(MPD)in the zebrafish.Methods The primers were designed based on the forward and reverse sequences of the jak2aV581Fmutation site(GenBank NM_131093). Plasmids pGM-T-jak2aV581F were used as the templates to amplify the full-length pGM-T-jak2a-wt by using RT-PCR.After digested with restriction endonuclease DpnⅠ,the PCR product was transformed into competent cells DH5α.The positive recombinant clones were selected and identified by blue/white screening.A small number of plasmids pGM-T-jak2a were extracted and linearized with NdeⅠ,followed by in vitro pGM-T-jak2atranscription with T7Transcript Aid enzyme and capping with the capped analog.Afterwards,the target product was identified by gel electrophoresis.The capped jak2a-wt at the concentration of 200ng/μL was then microinjected into the zygotes of the zebrafish at single cell period and the effect of the overexpression of jak2aon erythropoiesis was examined by O-dianisidine staining.Results The site-directed mutation of jak2aV581Fwas completed and the full-length pGM-T-jak2a-wt was constructed.It sequence was identical to that in GenBank(NM_131093).Gel electrophoresis showed that the jak2aRNA product was consistent with the expected results after in vitro restriction endonuclease linearization and transcription.O-dianisidine staining revealed a significant increase in the erythrocytes in the yolk sac and intermediate cell mass(ICM)of zygotes overexpressing jak2a.Conclusion Site-directed mutation of the zebrafish gene jak2a,its in vitro transcription and capping of pGM-T-jak2a-wt were successfully completed.Overexpression of jak2ain vivo plays a significant role in the erythropoiesis.