磷酸甘油酸脱氢酶基因与肿瘤

磷酸甘油酸脱氢酶(phosphoglycerate dehydrogenase,PHGDH)基因编码3-磷酸甘油酸脱氢酶,是糖酵解-丝氨酸生物合成途径中的第一个分支酶.PHGDH氧化糖酵解中间产物3-磷酸甘油酸为磷酸羟基丙酮酸,后通过一系列酶的作用最终合成丝氨酸.丝氨酸在蛋白和细胞增殖所需其他生物分子(如核苷酸、磷脂丝氨酸、鞘氨醇)的合成中起着重要的作用.最新研究发现PHGDH高表达于一系列肿瘤中,且与肿瘤细胞生长、凋亡相关.该文就PHGDH基因结构、功能及与肿瘤的关系作一综述.     

新辅助化疗治疗儿童骨肉瘤1例并文献复习

近30年来,随着新辅助化疗的开展和完善,骨肉瘤治愈率明显提高。本院收治儿童骨肉瘤1例,采用新辅助化疗,现综合国内外文献,对该治疗方法作一回顾和总结。     

儿童急性淋巴细胞白血病危险因素的病例对照分析

目的:探索儿童急性淋巴细胞性白血病(ALL)发生的危险因素,为该地区儿童ALL的防治提供依据。方法:采用病例对照的流行病学研究方法,对233例ALL患者及380例健康对照进行问卷调查,资料处理采用EPIDATA3.02录入,SPSS13.0统计分析,通过Logistic回归模型进行单因素和多因素分析,计算比值比(OR),估计各危险因素与儿童ALL的关联强度。结果:所调查的因素中共筛选出8项与ALL发病有关的危险因素,其中5项(是否与父母共同居住、是否早产、儿童杀虫剂接触史、儿童父母亲是否吸烟、家庭是否装修)在多因素回归仍有显著意义。结论:儿童急性淋巴细胞性白血病的发生是多种因素共同作用的结果,在当地针对上述因素进行预防可降低儿童ALL发生的危险性。     

儿童急性淋巴细胞白血病危险度相关基因表达谱的初步研究

目的 研究急性淋巴细胞白血病(ALL)患儿的基因表达谱,探索与儿童ALL危险度相关的新基因.方法 以3例初诊危险度为标危调整后转入高危(B组)和3例初诊和调整后危险度均为标危(A组)的ALL患儿为观察组,3例特发性血小板减少性紫癜患儿为正常对照组,应用Illumina Human-6全基因组表达谱微珠芯片研究B组和A组患儿的差异性基因.通过实时定量RT-PCR,以82例ALL患儿为观察组,21例骨髓象正常患儿为对照组,以ABCC4、BCL11A、TOP2A 3个差异性基因为目的 基因进行验证研究.结果 ①B组与A组患儿有19个基因差异性表达,包括ABCC4、BCL11A 等14个上调基因和TOP2A等5个下调基因.②实时定量RT-PCR检测结果显示ABCC4和BCL11A基因的相对表达量观察组明显高于对照组(P＜0.01);高危组明显高于标危组(P＜0.05);TOP2A基因的相对表达量观察组明显低于对照组(P＜0.01);高危组明显低于标危组(P＜0.05).③与临床指标的相关性研究结果显示,缓解组ABCC4基因的相对表达量明显低于未缓解组(P＜0.05);各组间BCL11A基因的相对表达量差异均无统计学意义(P＞0.05);缓解组TOP2A基因的相对表达量明显高于未缓解组,泼尼松试验敏感组明显高于不敏感组(P＜0.05).结论 儿童ALL的发病及耐药是多基因共同参与的结果,研究ALL患儿的基因表达谱对儿童ALL的耐药机制、预后判断、早期干预和靶向治疗等具有重要意义.

Abstract：

Objective To explore genes associated with risk classification of childhood acute lymphoblastic leukemia(ALL) by gene chip technology. Methods Group A and B were both composed of three newly diagnosed ALL cases with standard risk. After re-evaluation, group B was relegated to high-risk. The control group was composed of three idiopathic thrombocytopenic purpura(ITP) patients. The gene expression profiles of group A and B were studied by Illumina Human-6 Beadchip. Eighty-two ALL patients were selected as the experimental group and 21 with normal bone marrow as control group for real-time quantitative RT-PCR (RQ-PCR). Results ①There were 19 genes expressed differently between group B and A, including 14 upregulated as ABCC4 and BCL11A, 5 down-regulated genes as TOP2A. ②ABCC4 and BCL11 A were validated by RQ-PCR and their expression level was higher in the high risk group than in the standard risk group( P ＜0.05 ). The gene expression level in the group A and B was higher than that in the normal control group( P ＜ 0.01 ). TOP2A was also validated by RQ-PCR and its expression level in the high risk group was lower than that in the standard risk group(P ＜0.05). The gene expression level in the groups A and B was lower than that in the normal control group and the difference was statistically significance( P ＜ 0. 01 ). ③There was a significant difference in the expression level of ABCC4 between the remission and unremission patients ( P ＜0.05 ). There was no significant difference in the expression level of BCL1 1A between different clinical indicators (P ＞ 0.05). There was significant difference in the expression level of TOP2A between remission and predtnisone good responder groups ( P ＜ 0.05 ). Conclusions Fourteen genes studied were involved in the pathogenesis and drug resistance mechanism in childhood ALL patients. Investigation of gene expression pro file will be helpful for predicting drug resistance, prognosis, early intervention and target therapy in childhood ALL.     

儿童血液肿瘤护理质量指标体系的构建

目的 构建儿童血液肿瘤护理质量指标体系。方法在中国抗癌协会小儿肿瘤专业委员会及其护理学组的支持下,以Donabedian质量管理模式为依据,采用文献分析、半结构式访谈、Delphi法和层次分析法,确定儿童血液肿瘤护理质量指标及各指标权重。结果 3轮函询问卷的有效回收率分别为100%、93.3%和100%,专家权威系数Cr值分别为0.93、0.93、0.96,协调系数W值分别为0.209、0.166和 0.332,卡方检验均P＜0.01。最终形成的指标体系包括一级指标3项,二级指标8项,三级指标29项,并确定了各指标权重。结论 儿童血液肿瘤护理质量指标体系设置科学、合理,专科特色突出,有利于专科持续发展。     

以粒细胞肉瘤为首发表现的儿童t(8;21)急性髓细胞性白血病一例并文献复习

<正>粒/髓细胞肉瘤(granulocytic sarcoma or myeloid sarcoma,GS/MS)是一种少见的由原始粒细胞或不成熟粒细胞组成的髓细胞在髓外增生和浸润所形成的髓外白血病(extramedullary leukemia,EML),也称绿色瘤(chloroma),该肿瘤最常侵犯的部位为软组织、骨、皮肤、腹膜、淋巴结、骨及胃肠道、中枢神经系统、眼等[1]。GS可单发(即孤立性MS,     

移植后地西他滨输注治疗儿童难治性急性髓系白血病合并神经母细胞瘤1例

1病例资料1.1移植前诊治经过患儿,男,3岁4月,2017年6月因面色苍白、乏力1月入院,查体:贫血貌,右颌下及双侧腹股沟可及数枚黄豆大小肿大淋巴结,心肺未见异常,肝脾未及。实验室检查:血常规:白细胞52.71×10⁹/L、淋巴细胞30.7%、血红蛋白45g/L、血小板35×10⁹/L;骨髓象:原始细胞占42%;白血病免疫分型:分析幼稚群体58.9%,CD3377.5%,CD11b 58.3%,CD45100%,CD1562.9%,CD6463.7%,HLA-DR 39.8%,MPO 74%。     

唐氏综合征相关髓系增殖的研究进展

唐氏综合征(DS)患儿于婴儿期常发生暂时性骨髓增殖失调(TMD),随后其罹患急性巨核细胞白血病(AMKL)几率显著增高,DS相关暂时性骨髓增殖失调(DS-TMD)与DS相关急性巨核细胞白血病(DS-AMKL)二者间存在相同GATA1基因突变体类型.第21号染色体三体性(T21)与GATA1基因突变体的获得及额外的基因事件构成DS相关白血病发病机制的“三次打击”学说;“静默型”TMD概念的提出及结合GATA1基因突变体的监测对DS患儿进行危险度分组干预治疗,有望进一步提高DS-TMD治愈率;作为研究体内白血病疾病进展的“多步骤模型”,从DS,TMD到AMKL的疾病进展过程,有助于对正常造血干/祖细胞如何转化为自血病细胞及该恶性疾病转化过程中特定的信号通路与癌基因间相互作用的进一步阐释.笔者将对上述DS相关髓系增殖(DS-MP)相关过程及其中作用机制进行综述,对DS-MP的进一步研究提供理论基础.