MDS患者反复输注血小板的输血效果及其影响因素分析

目的:探讨骨髓增生异常综合征(MDS)患者反复输注血小板的输血效果,并分析影响血小板输注无效(PTR)的因素。方法:选取2019年1月—2022年12月潍坊市中医院收治的63例MDS患者为此次研究对象。依据PTR判定标准[输血后24 h校正血小板增高指数值(CCI)≤4、血小板回升率(PPR)≤20%]评估入组对象输血效果,logistic回归分析影响MDS患者PTR的因素。结果:入组63例MDS患者中,34例(53.97%)输注有效,29例(46.03%)输注无效。有效组与无效组在血小板抗体阳性、发热、脾肿大、P-选择素、人抗凝血酶3抗体水平比较上差异均有统计学意义(P<0.05),在性别、年龄、体重指数(BMI)、病程、WHO分型、国际预后评分(IPSS-R)、凝血酶原时间(PT)、活化部分凝血活酶时间(APTT)比较,差异均无统计学意义(P>0.05)。单因素logistic分析结果显示,上述有统计学差异的指标均为影响MDS患者PTR的相关因素(P<0.05)。多因素logistic回归分析结果显示,血小板抗体阳性、P-选择素、人抗凝血酶3抗体升高均为影响MDS患者PTR的危险因素(OR=1.855、1.927、1.984,P<0.05)。结论:MDS患者反复输注血小板的输血效果不甚理想,PTR主要与血小板抗体阳性、P-选择素和人抗凝血酶3抗体水平有关。

伴RUNX1突变的MDS患者临床特征及预后分析

目的探究RUNX1突变在骨髓增生异常综合征(myelodysplastic syndromes,MDS)患者中的临床特征及预后影响。方法收集2009年1月~2021年2月于上海交通大学医学院附属第六人民医院初诊的661例MDS患者的骨髓标本,采用二代测序检测一系列基因突变,重点回顾性分析RUNX1患者的临床特征、共同突变表达谱及预后意义。结果661例MDS患者中,65例伴有RUNX1突变。与无RUNX1突变患者比较,RUNX1突变患者骨髓原始细胞比例增加(P<0.001),其预后分层在修订国际预后积分系统(Revised International Scoring System,IPSS-R)较高危组和IPSS-M(IPSS-Molecular)高危/极高危组均占比较高(P<0.001)。59例RUNX1突变患者同时存在其他基因突变,突变频率较高的是ASXL1(24.62%)、TET2(24.62%)、EZH2(21.54%)和U2AF1(21.54%)等,主要为表观遗传学基因(63.62%)和剪切子基因(38.46%)。相关性分析发现,RUNX1突变与EZH2、PHF6和U2AF1突变呈正相关(Q<0.05)。RUNX1突变患者总体生存期较短(16个月vs 47个月,P<0.001),急性髓系白血病(acute myeloid leukemia,AML)转化风险较高(P<0.001),但在RUNX1主克隆和亚克隆突变间患者总体生存差异无统计学意义。结论RUNX1突变在MDS患者中发生率较高,且常伴有表观遗传学基因和剪切子基因突变。RUNX1突变预示着较短的总体生存期和较高的AML转化风险。

罗沙司他治疗难治性NSAA和低风险MDS相关贫血的疗效和安全性

目的探讨罗沙司他治疗难治性非重型再生障碍性贫血(NSAA)和低风险MDS(LR-MDS)的整组及亚组疗效、亚组疗效差异、疗效预测因素及安全性。方法收集2020年8月至2022年12月在北京协和医院血液内科就诊的难治性NSAA和LR-MDS患者,所有患者在罗沙司他治疗前,都接受过一线的标准治疗,并包括至少3个月以上的重组人促红细胞生成素(rhEPO)。患者均使用过罗沙司他2.5 mg/kg隔天1次,至少3个月,并随访至少8个月。分析患者临床特征、罗沙司他的疗效、疗效预测因素、不良反应、复发及疾病克隆演变情况。结果共纳入40例患者,包括24例难治性NSAA和16例LR-MDS。年龄18~81岁,中位年龄56岁,男性占40%。65%的患者有输血依赖。随访9~34个月,中位随访21个月,在第1、2、3、4、5、6个月及随访期末,分别有22.5%、25.0%、47.5%、55.0%、57.5%、60.0%和50.0%的患者达到血液学改善-红系反应(HI-E),未发现影响HI-E的因素。两组患者组间血红蛋白较基线变化在随访期末差异有统计学意义(P<0.05)。50%患者脱离输血依赖。22.5%患者报告了不良反应。28.5%患者在达到HI-E后复发,复发时间4~12个月,复发中位时间为7个月。在随访期末未观察到克隆演变。结论罗沙司他对传统疗法和rhEPO难治的NSAA或LR-MDS患者可能有效,不良反应轻微,复发率较低。难治性NSAA患者血红蛋白改善的程度可能更好。

单倍体供者与HLA相合供者HSCT治疗儿童MDS的疗效和安全性对比

目的评价单倍体供者移植作为替代方案用于异基因造血干细胞移植(allo-HSCT)治疗儿童骨髓增生异常综合征(MDS)的疗效及安全性。方法对2013年4月1日—2022年8月30日至苏州大学附属儿童医院接受allo-HSCT的22例儿童进展型MDS进行回顾性分析,其中全相合移植6例,单倍体移植16例。结果22例患儿均实现中性粒细胞植入,全相合组和单倍体组中性粒细胞植入中位时间分别为移植后11(10~12)天和11(9~17)天,血小板植入中位时间分别为移植后11(8~16)天和12(7~28)天。两组aGVHD的发生率分别为50%和100%(P=0.013),Ⅱ~Ⅳ度aGVHD发生率分别为0%和81%(P=0.001),aGVHD发生时间、Ⅲ~Ⅳ度aGVHD、cGVHD、广泛型cGVHD发生率无统计学意义。单倍体组移植后围植入综合征发生率为81%,显著高于全相合组的17%(P=0.011)。全相合组和单倍体组在CMV血症、EBV血症、出血性膀胱炎、肺部感染及神经系统并发症发生率上差异无统计学意义。至随访截止日期,全相合组中位随访时间为20.82(8.00~68.00)个月,单倍体组中位随访时间为21.38(2.77~69.77)个月,两组5年总体生存率分别为100%和(72.7±17.7)%,两组差异无统计学意义。结论单倍体移植与同胞全相合移植后细胞植入、严重的移植相关并发症发生率、免疫重建及长期存活率无明显差异,因此,对于无全相合供者的儿童MDS患者,单倍体供体移植可作为合适的替代方案。

BCOR突变通过PI3K/Akt/mTOR通路介导MDS细胞生物学行为改变的机制研究

目的 探讨BCOR(BCL6 co-repressor)基因突变介导骨髓增生异常综合征(myelodysplastic syndromes, MDS)细胞生物学行为的分子机制。方法 通过构建BCORP483L过表达慢病毒以及空载体病毒,转染K562细胞,采用集落形成实验检测BCOR突变对细胞克隆形成能力的影响,流式细胞术检测细胞凋亡、细胞周期,Western blot法和实时荧光定量聚合酶链反应(real-time quantitative polymerase chain reaction, RT-qPCR)方法检测细胞焦亡和PI3K/Akt/mTOR通路分子水平,采用转录组测序技术(RNA-sequencing, RNA-Seq)检测分析BCORP483L突变对下游靶基因表达的影响。结果 BCORP483L突变显著地抑制细胞克隆形成能力,促进细胞凋亡,并导致细胞周期阻滞和细胞焦亡水平增加。RNA-Seq分析发现,BCORP483L突变后K562内与细胞凋亡、G2M周期检查点、慢性髓系白血病、细胞衰老、细胞内炎性反应相关的基因以及原癌基因MYC目标基因表达上调。Western blot法实验进一步证实,BCORP483L突变细胞的PI3K/Akt/mTOR通路明显受到抑制。结论 BCOR突变导致细胞PI3K/Akt/mTOR通路受到抑制,进而导致细胞凋亡增加、增殖受抑。BCOR突变能通过上调细胞衰老相关基因以及原癌基因MYC目标基因表达,提高细胞内炎性反应水平,从而促进MDS疾病进展。

外周血涂片+骨髓涂片+流式细胞术联合应用对MDS早期诊断准确性的影响

目的 探讨在骨髓增生异常综合征(MDS)应用外周涂片联合骨髓涂片与流式细胞术进行早期诊断的临床效果。方法 选取2019年6月—2022年6月本院接收诊治的骨髓增生异常综合征患者120例作为此次研究对象,按照检验方式的不同将患者分为实验组和对照组,每组60例。其中,对照组单独使用外周血涂片进行MDS的早期诊断,实验组则联合外周血涂片、骨髓涂片和流式细胞术进行MDS的早期诊断。对比两组患者的诊断结果。结果 经过检查后,实验组患者的检测结果明显优于对照组,差异有统计学意义(P<0.05)。结论 将外周血涂片、骨髓涂片和流式细胞术联合起来进行MDS的早期诊断,检测准确性更高,能够为临床治疗提供更精准的数据支持。

活化T细胞及淋巴细胞亚群在MDS中的分布及意义

目的:探讨骨髓增生异常综合征(MDS)患者骨髓淋巴细胞亚群的分布及免疫表型为CD3^(+)HLA-DR+的活化T细胞在淋巴细胞中的占比及其临床意义,了解不同类型的MDS及不同免疫表型、不同WT1的表达量对淋巴细胞亚群及活化T细胞比例的影响。方法:采用流式细胞术检测96例MDS的免疫表型,以及骨髓淋巴细胞亚群的分布和活化T细胞的表达。采用实时荧光定量PCR检测WT1的相对表达量,统计初次诱导缓解率(CR1)。分析MDS患者不同免疫表型、不同WT1表达量、不同病程情况中淋巴细胞亚群及活化T细胞比例的差异。结果:在MDS-EB-2、IPSS高危、CD34^(+)细胞比例>10%,以及伴有CD34^(+)CD7^(+)细胞群、初诊时WT1基因高表达的MDS患者CD4^(+)T比例明显下降(P<0.05),NK细胞及活化T细胞比例明显升高(P<0.05),但B淋巴细胞比例无明显差异。与正常对照组相比,IPSS中危-2组NK细胞及活化T细胞比例明显升高(P<0.05),但CD3^(+)及CD4^(+)的T淋巴细胞比例无明显差异。与未完全缓解的患者相比,首次化疗后完全缓解的患者CD4^(+)T细胞比例明显升高(P<0.05),NK细胞比例及活化T细胞比例明显减低(P<0.05)。结论:MDS患者中CD3^(+)T淋巴细胞比例减低、CD4^(+)T淋巴细胞比例减低,活化T细胞比例升高提示MDS分化类型更原始,预后更差。

Clinical management of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes

The myelodysplastic/myeloproliferative neoplasms(MDS/MPNs) are a unique group of hematologic malignancies characterized by concomitant myelodysplastic and myeloproliferative features. According to the 2008 WHO classification, the category includes atypical chronic myeloid leukemia(a CML), chronic myelomonocytic leukemia(CMML), juvenile myelomonocytic leukemia(JMML), MDS/MPN-unclassifiable(MDS/MPN-U), and the provisional entity refractory anemia with ring sideroblasts and thrombocytosis(RARS-T). Although diagnosis currently remains based on clinicopathologic features, the incorporation of nextgeneration platforms has allowed for the recent molecular characterization of these diseases which has revealed unique and complex mutational profiles that support their distinct biology and is anticipated to soon play an integral role in diagnosis,prognostication, and treatment. Future goals of research should include the development of disease-modifying therapies, and further genetic understanding of the category will likely form the foundation of these efforts.

Identification of SNP-containing regulatory motifs in the myelodysplastic syndromes model using SNP arrays and gene expression arrays

Myelodysplastic syndromes have increased in frequency and incidence in the American population, but patient prognosis has not significantly improved over the last decade. Such improvements could be realized if biomarkers for accurate diagnosis and prognostic stratification were successfully identified. In this study, we propose a method that associates two state-of-the-art array technologies-single nucleotide polymorphism (SNP) array and gene expression array-with gene motifs considered transcription factor -binding sites (TFBS). We are particularly interested in SNP-containing motifs introduced by genetic variation and mutation as TFBS. The potential regulation of SNP-containing motifs affects only when certain mutations occur. These motifs can be identified from a group of co-expressed genes with copy number variation. Then, we used a sliding window to identify motif candidates near SNPs on gene sequences. The candidates were filtered by coarse thresholding and fine statistical testing. Using the regression-based LARS-EN algorithm and a level-wise sequence combination procedure, we identified 28 SNP-containing motifs as candidate TFBS. We confirmed 21 of the 28 motifs with ChIP-chip fragments in the TRANSFAC database. Another six motifs were validated by TRANSFAC via searching binding fragments on coregulated genes. The identified motifs and their location genes can be considered potential biomarkers for myelodysplastic syndromes. Thus, our proposed method, a novel strategy for associating two data categories, is capable of integrating information from different sources to identify reliable candidate regulatory SNP-containing motifs introduced by genetic variation and mutation.

TET2 Expression in Bone Marrow Mononuclear Cells of Patients with Myelodysplastic Syndromes and Its Clinical Significances

Objective To investigate the expression of TET2 mRNA and protein in the bone marrow mononuclear cells(BMMNC) of patients with myelodysplastic syndrome(MDS) and its clinical significance. Methods The expression of TET2 mRNA and protein in bone marrow mononuclear cells(BMMNC) of 32 patients with MDS and 20 healthy donors was examined by qPCR and Western blot. Results The expression of TET2 mRNA in BMMNC was down-regulated in MDS patients compared with the donor group [(0.41±0.28)%vs.(1.07±0.56)%](P<0.001).Compared with lower expression group(TET2<0.4)[(6.53±6.17)%],patients with higher expression of TET2(≥0.4) presented significantly lower proportion of bone marrow blasts[(1.21±1.56)%](P<0.05).The expression of TET2 mRNA in BMMNC of MDS patients was inversely correlated with malignant clone burden(r=-0.398,P<0.05) and IPSS(r=-0.412, P<0.05).The expression of TET2 protein was down-regulated in MDS patients compared with that in the donor group. Conclusions The mRNA and protein expression of TET2 in BMMNC of MDS patients is decreased,which might be useful as an important parameter for the evaluation of MDS clone burden.

BURDEN OF ABNORMAL HEMATOPOIETIC CLONE IN PATIENTS WITH MYELODYSPLASTIC SYNDROMES

Objective To investigate the role of the burden of abnormal hematopoietic clone in the development of myelodysplastic syndromes (MDS). Methods The ratio of the bone marrow cells with abnormal chromosomes to the total counted bone marrow cells was regarded as the index of MDS clone burden. The disease severity related parameters including white blood cell count, hemoglobin, platelet count, lactate dehydrogenase level, bone marrow blast, myeloid differentiation index, micromegakaryocyte, transfusion, interleukin-2, tumor necrosis factor (TNF), CD4^+ and CD8^+ T cells of MDS patients were assayed, and the correlations between those parameters and MDS clone burden were also analyzed. Results The clone burden of MDS patients was 67.4%±36.2%. MDS clone burden positively correlated with bone marrow blasts (r = 0.483, P<0.05), negatively with hemoglobin level (r=-0.445, P<0.05). The number of blasts, hemoglobin, and erythrocytes in high clone burden (>50%) and low clone burden (≤50%) groups were 7.78%±5.51% and 3.45%±3.34%, 56.06±14.28 g/L and 76.40±24.44 g/L, (1.82±0.48)×10~ 12 /L and (2.32±0.66)×10~ 12 /L, respectively (all P<0.05). CD4^+ T lymphocytes of MDS patients and normal controls were (0.274±0.719)×10~ 9 /L and (0.455±0.206)×10~ 9 /L, respectively (P<0.05). CD8^+ T lymphocytes of MDS patients and normal controls were (0.240±0.150)×10~ 9 /L and (0.305±0.145)×10~ 9 /L, respectively. The serum level of interleukin-2 of MDS patients (6.29±3.58 ng/mL) was significantly higher than normal control (3.11±1.40 ng/mL, P<0.05). The serum level of TNF of MDS patients and normal control group were 2.42±1.79 ng/mL and 1.68±0.69 ng/mL, respectively. The ratio of CD4 to CD8 was higher in high clone burden MDS patients (1.90±0.52) than that in low clone burden patients (0.97±0.44, P<0.05). Conclusion The quantitive clonal karyotype abnormalities and deficient T cell immunity are important parameters for evaluating MDS severity and predicting its progression.

Expression of DLK1 Gene in the Bone Marrow Cells of Patients with Myelodysplastic Syndromes and Its Clinical Significance

Objective This study aims to investigate the expression of delta-like 1(DLKl) gene in the bone marrow cells of patients with myelodysplastic syndromes(MDS) and to explore its molecular characteristics for the early diagnosis of MDS. Methods The expression of DLK1 mRNA in the bone marrow cells of cases with MDS,acute myeloid leukemia(AML),and normal control groups were measured by real-time polymerase chain reaction and were analyzed for clinical significance. Results Significantly higher expression of DLK1 mRNA was observed in the bone marrow cells of MDS patients(0.7342±0.3652) compared with the normal control group(0.4801±0.1759)(P<0.05).The expression of DLK1 mRNA had a positive correlation with the proportion of bone marrow blasts(r=0.467,P<0.05).Moreover,DLKl mRNA expression was significantly increased as MDS progressed (P<0.05).Patients with abnormal karyotypes exhibited significantly higher expression of DLKl mRNA(0.9007±0.4334) than those with normal karyotypes(0.6411±0.2630)(P<0.05).Subsequently,patients with highly expressed DLKl(>0.8) presented significantly higher malignant clone burden(0.4134±0.3999) than those with lower DLKl expression(<0.8),(0.1517±0.3109),(P<0.05). Conclusions The DLK1 gene was highly expressed in MDS patients,and was increased as MDS progressed.The expression of DLK1 mRNA was positively correlated with the proportion of the bone marrow blasts.A high expression of DLKl gene suggested a higher malignant clone burden of MDS.

EARLY DIAGNOSIS OF MYELODYSPLASTIC SYNDROMES USING CLONAL ANALYSES

Objective: To study the value of clonal analysis to the early diagnosis of myelodysplastic syndrome (MDS). Methods: Four types of clonal analyses were performed on the bone marrow samples from 50 patients suspected of MDS: (1) Conventional Cytogenetics (CC) for clonal chromosomal abnormalities; (2) BrdU-Sister Chromatid Differentiation (BrdU-SCD) for cell cycle kinetics; (3) Fluorescence in Situ Hybridization (FISH) for trisomy 8; (4) Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) for N-ras mutation. Results: The diagnosis of forty-three patients was compatible with the FAB criteria for MDS. The other seven cases didn’t meet the FAB criteria, with only one lineage of dyspoiesis or with no obvious dysplastic changes. Among these seven cases, two were morphologically diagnosed with suspicious refractory anemia, one with sideroblastic anemia, one with leukemoid reaction, one with hypercellular anemia and two with chronic aplastic anemia. Clonal analyses of the 7 patients showed that six cases had clonal karyotype abnormalities, four had prolonged cell cycle patterns, four had trisomy 8 of different proportions and one had mutation of the exon 1 of N-RAS. Thus, they were revaluated as MDS patients. Conclusion: The untypical MDS patients with one lineage dyspoiesis or without obvious dysplastic changes can be diagnosed early by combining multiple clonal analysis techniques such as CC, SCD, FISH and PCR-SSCR.

基于高通量测序技术的105例AML和MDS患者驱动基因突变谱差异性分析

目的获得西南地区急性髓系白血病(AML)和骨髓增生异常综合征(MDS)患者的基因突变谱特征,分析其差异性,探讨AML和MDS的差异性指标。方法回顾性分析2019年9月至2022年12月该院收治的71例AML患者和34例MDS患者的临床资料,将AML和MDS患者分别按年龄进行分组,年龄≥60岁纳入老年组,年龄<60岁纳入中青年组。患者住院期间均采用高通量测序技术进行基因突变谱检测,采用流式细胞术检测分化抗原。通过分析比较基因突变谱的特征,并结合细胞表面分化抗原,获得西南地区AML和MDS患者基因突变谱的差异性。结果AML和MDS患者老年组与中青年组的中位年龄比较,差异有统计学意义(P<0.05)。AML患者老年组男性比例较高,为76.2%,明显高于中青年组(P<0.05)。AML患者中DNMT3A的突变频率与年龄有关(P<0.05)。CEBPA、FLT3、RUNX1基因突变频率在AML中分别为23.9%、32.4%、9.9%,在MDS中分别2.9%、11.8%、26.5%,差异均有统计学意义(P<0.05)。结论髓系白血病患者的基因突变频率与患者的年龄和性别有一定的关系;AML和MDS有特定突变位点和突变基因,可以将以上基因突变作为临床辅助鉴别诊断的有效指标。

Remarkably different results between two studies from North America on genomic mutations and sensitivity to DNA demethylating agents for myelodysplastic syndromes

Sekeres et al. （1） conducted a multicenter randomized, controlled trial to compare whether azacitidine-based combinations with lenalidomide or vorinostat produce superior overall response rates to azacitidine in the treatment of myelodysplastic syndromes （MDS）. In that trial, 224 patients with higher-risk MDS and 53 with chronic myelomonocytic leukemia （CMML） were enrolled and randomly assigned to the ＂azacitidine＂ group, ＂azacitidine plus lenalidomide＂ group or ＂azacitidine plus vorinostat＂ group. The researchers found that patients with MDS treated with azacitidine-based combinations had similar response rate to azacitidine monotherapy. Using genomic mutation analysis, they found that the overall response rate to azacitidine-based treatment was higher for patients with mutations in DNMT3A and lower for those with mutations in SRSF2. Whereas in another study, Welch et al. enrolled 26 patients with MDS and 90 with acute myeloid leukemia （AML） who were treated with decitabine, and they found that patients with TP53 mutations had a higher response rate, but not those with DNMT3A mutations （2）. We propose that this big discrepancy in the conclusions between the two studies might have been caused by the presence of many co-interacting factors, e.g. study aims, DNA demethylating agents, treatment protocols, and patient sources.

Insights into myelodysplastic syndromes from current preclinical models

In recent years, there has been significant progress made in our understanding of the molecular genetics of myelodysplastic syndromes(MDS). Using massively parallel sequencing techniques, recurring mutations are identified in up to 80% of MDS cases, including many with a normal karyotype. The differential role of some of these mutations in the initiation and progression of MDS is starting to be elucidated. Engineering candidate genes in mice to model MDS has contributed to recent insights into this complex disease. In this review, we examine currently available mouse models, with detailed discussion of selected models. Finally, we highlight some advances made in our understanding of MDS biology, and conclude with discussions of questions that remain unanswered.

Emerging immunological concepts in the pathogenesis of myelodysplastic syndromes

The involvement of T-lymphocytes in the pathogenesis of myelodysplastic syndromes(MDS) is now well documented by relevant clinical and experimental findings.This brief review will focus on the T-cell repertoire pattern typical of MDS patients as well as on the potential role exerted by specific T-cell subsets in this context.Future investigations should further explore the specific role played by different T-cell subsets in the bone marrow milieu typical of MDS, further clarifying which of the described changes represent either an epiphenomenon or rather a real causative factor in the pathogenesis of these disorders.

A case of myelodysplastic syndromes with initial symptom of erythra

Myelodysplastic syndrome(MDS)is a malignant clonal disease of human hematopoietic stem cells.In this paper,a case of MDS with fever and rash as the first symptom was reported in our hospital,and the related literature was reviewed and summarized to provide ideas for the diagnosis of MDS.Case summary:The patient,male,62 years old,with systemic rash and fever as the initial symptoms,early multiple bone marrow examination showed no typical abnormalities.With the progress of the disease,bone marrow cytology,flow cytometry,molecular karyotype,chromosomal karyotype,skin biopsy and pathological diagnosis were performed,and the diagnosis was 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.

MDS与MA患者临床特征差异及胆红素、α-HBDH、CA153、乳酸脱氢酶在其鉴别诊断中的价值

目的 探究胆红素(BILI)、α-羟丁酸脱氢酶(α-HBDH)、糖类抗原153(CA153)、乳酸脱氢酶(LDH)在骨髓增生异常综合征(MDS)、巨幼细胞性贫血(MA)鉴别诊断中的诊断价值。方法 回顾性分析漯河市中医院2019年1月至2021年8月收治的MDS(43例)与MA(47例)患者的临床资料,另选取同期健康体检的60例患者作为健康对照组。比较3组患者的临床特征,比较BILI、α-HBDH、CA153、LDH水平,通过受试者工作特征(ROC)曲线分析其诊断价值。结果 MDS组较MA组感染、出血的发生率高,贫血发生率低(P<0.05)。MDS组与MA组BILI、α-HBDH、CA153及LDH水平高于对照组,MA组BILI、α-HBDH、CA153及LDH水平高于MDS组(P<0.05)。BILI、α-HBDH、CA153及LDH诊断MDS的曲线下面积(AUC)分别为0.760、0.988、0.995、0.947,表明BILI具有一定的诊断准确性,α-HBDH、CA153及LDH的诊断准确性较高。BILI、α-HBDH、CA153及LDH诊断MA的AUC分别为0.921、0.925、0.994、0.991,均处于准确性较高的水平。BILI、α-HBDH、CA153及LDH区分MDS与MA的AUC分别为0.722、0.801、0.847、0.962,表明BILI、α-HBDH、CA153具有一定的诊断准确性,而LDH诊断准确性较高。结论 BILI、α-HBDH、CA153及LDH在MDS和MA患者中表达异常,且均对鉴别MDS与MA具有较好的敏感度,能够为临床诊治提供依据。