骨髓增生异常综合征免疫表型的研究

目的:评价免疫表型测定在骨髓增生异常综合征(MDS)诊断及分型中的价值。方法:应用单克隆抗体方法对55例MDS患者进行免疫表型检测。结果:MDS患者髓系抗原表达明显增高,FAB亚型的抗原表达呈现规律性改变,随着RA向RAEB/RAEB蛳t转化,较早期的髓系抗原(CD33)逐渐增加,较成熟的CD15抗原和T蛳淋巴细胞抗原逐渐减少;同时在RAEB/RAEB蛳t阶段CD+34细胞数明显增高;较早期的骨髓细胞表面抗原(CD38、HLA蛳DR)在MDS表达明显增加。结论:免疫表型的检测对MDS更精确的诊断和分型有重要意义。

辨证论治难治性贫血38例

以肾主骨生髓、血为精所化的观点 ,辨证论治骨髓增生异常综合征的一个亚型 ,难治性贫血 3 8例。结果 ,基本缓解 10例 ,部分缓解 14例 ,进步 7例 ,无效 7例 ,总有效率 81 1%。治后随访 ,存活 1年以上 8例 ,5年以上 18例 ,10年以上 5例 ,死于白血病 1例 ,死于感染 5例 ,死于脑出血 1例。中医药辨证治疗可有效地阻止难治性贫血向白血病转化过程。

SNP芯片技术在恶性血液病中的应用

单核苷酸多态性(SNP)是由基因组核苷酸水平上的变异引起的DNA序列多态性,被称为第三代遗传标记。基于该标记的SNP芯片技术可在全基因组水平检测易感基因,在疾病研究领域中的应用方兴未艾。SNP芯片是一种简便可靠、敏感、高效的扫描技术,该方法为多基因位点的关联分析提供了有力的技术支持,具备十分广阔的应用前景。恶性血液病包括多种疾病,其近年来发病率逐年增高,究其根本原因是多基因关联作用的结果。本文就SNP芯片技术对全基因组的扫描方法,以及该技术在部分恶性血液病(白血病、恶性淋巴瘤、青少年单核—粒细胞白血病、骨髓增生异常综合征、多发性骨髓瘤等)发病机理、临床表现、治疗效果及预后判断中的应用作一综述。

Abnormal expression of PACAP gene in patients with myelodysplastic syndrome

Objective： To explore the expression pattern of PACAP gene in patients with myelodysplastic syndrome （MDS）. Methods： The expression pattern of PACAP gene in CD34＋ cells from MDS patients was determined by microarray, confirmed in expanding samples by quantitative real-time PCR in bone marrow mononuolear cells. Results： The transcription of PACAP gene was found significantly down-regulated in patients with MDS in comparison with that in control samples, with a means of 220.1 in MDS-RA and 116.8 in MDS-RAEB （P 〈 0.05 ）. Conclusion： PACAP gene is expressed significantly lower in patients with MDS.

Variants of the Mitochondrial Displacement Loop in Patients with Myelodysplastic Syndromes

OBJECTIVE Some mtDNA mutations have been detected in patients with myelodysplastic syndromes(MDSs).As the non-coding region of mitochondria,the displacement loop(D-loop) region of mtDNA contains important elements for mtDNA replication and transcription.Variants of the D-loop region were found to be related to the cause of many diseases.The aim of our study was to investigate mutations and single nucleotide polymorphisms in the D-loop region of MDS patients.METHODS The mutations and SNPs in the hypervariable regions of the D-loop were detected by direct sequencing in MDS patients and normal controls.RESULTS Sixty-four SNPs were found in the D-loop region in MDS cases and control group.Among the SNPs,the 16,189 variant(T > C transition) was found to have an increased frequency in the MDS group(P = 0.044).However,no mutations were detected in neither group.CONCLUSION Our data provide evidence for a highly polymorphic D-loop region in patients with MDS,but do not support the presence of mutations in the mitochondrial D-loop region in MDS cases.The mtDNA T16,189C variant,which may be a functional variant,is associated with increased susceptibility to a MDS.

Expression and function of c-kit receptor in bone marrow mononuclear cells of patients with myelodysplastic syndromes

Objective To determine the expression and function of the c-kit receptor in bone marrow mononuclear cells (BMMNC) of patients with myelodysplastic syndromes (MDS). Methods Direct immunofluorescence assay and reverse transcriptase-polymerase chain reaction (RTPCR) were used to detect c-kit protein and c-kit mRNA expressions in the BMMNC of 29 MDS patients and 10 normal controls. Cell culture was used to detect the function of the c-kit receptor. Results c-kit protein expression in the MDS group was significantly higher than that in the control group (8.58％ +5.28％ vs 3.04％ + 1.49％, P＜0.05). c-kit protien expression in the refractory anemia (RA)group was significantly lower than that in the RA with an excess of blasts (RAEB)/RAEB in transformation (RAEB-t) group (5.12％ +2.13％ vs 10.01％ +5.07％, P＜0.05). The rate of c-kit protein expression was 32.43％ in aoute myeloblastic leukemia (AML) cases transformed from MDS (t-AML). c-kit mRNA expression in the MDS group was correlated with c-kit protein expression. Interieukin-3 (IL-3) and erythropoietin (Epo), with or without stem cell factor (SCF), upregulated c-kit protein and its mRNA expression. In the presence of IL-3 and Epo, SCF showed significant stimulating effects on the formation of CFU-GM and BFU-E in semi-solid cultures of normal BMMNC, but had no effects on those of the MDS patients.Conclusion The protein and mRNA expression of the c-kit receptor in the BMMNC of MDS patients were higher than those of normal controls, and the function of this receptor in MDS BMMNC was abnormal. Chin Med J 2001; 114(5) :481-485

Telomerase activity in myelodysplastic syndrome

To study telomerase activity (TA) and its variation in bone marrow mononuclear cells from patients with myelodysplastic syndrome (MDS) at different stages in comparison with normal bone marrow cells and leukemic cells Methods The TA was semi quantitatively determined in mononuclear cells from 20 normal bone marrow samples, 21 patients with MDS at different stages and 32 cases of acute leukemia by using a polymerase chain reaction enzyme linked immuno sorben assay (PCR ELISA) kit Results The TA in normal bone marrow cells was in the range of 0 to 0 3 units (U) with a mean of 0 11±0 08 U Among them, 3 samples were considered positive in accordance with the standard recommended by the kit’s pamphlet In bone marrow cells from patients with acute leukemia, the TA was ranging from 0 to 0 96 U with a mean value of 0 42±0 26 U The positive rate was 78 1% which was significantly different from that in normal bone marrow (BM) ( P 【0 01) In case of myelodysplastic syndrome, the average level of TA was 0 27±0 19 U (ranging from 0 to 0 97 U) with a positive rate of 66 7% In comparison with normal BM cells, the difference was significant ( P 【0 05) Particularly, the MDS high risk subgroup exhibited a significantly higher activity of telomerase ( P 【0 05) In comparison with INT 1 and INT 2 subgroups in MDS patients based on international prognostic scoring system (IPPS), the difference in TA was also significant ( P 【0 05) The abnormality in cell karyotype was not correlated with TA Conclusion The normal bone marrow cells demonstrate TA at a marginal level while a remarkably increasing level may be seen in acute leukemia patients The BM cells from MDS patients display a moderate TA among which the high risk MDS subgroup with a poor prognostic IPPS score exhibited markedly higher TA

Telomerase activity in myelodysplastic syndrome

OBJECTIVE: To study telomerase activity (TA) and its variation in bone marrow mononuclear cells from patients with myelodysplastic syndrome (MDS) at different stages in comparison with normal bone marrow cells and leukemic cells. METHODS: The TA was semi-quantitatively determined in mononuclear cells from 20 normal bone marrow samples, 21 patients with MDS at different stages and 32 cases of acute leukemia by using a polymerase chain reaction-enzyme linked immuno-sorben assay (PCR-ELISA) kit. RESULTS: The TA in normal bone marrow cells was in the range of 0 to 0.3 units (U) with a mean of 0.11 +/- 0.08 U. Among them, 3 samples were considered positive in accordance with the standard recommended by the kit's pamphlet. In bone marrow cells from patients with acute leukemia, the TA was ranging from 0 to 0.96 U with a mean value of 0.42 +/- 0.26 U. The positive rate was 78.1% which was significantly different from that in normal bone marrow (BM) (P