目的 对本院老年重症肺炎患者的临床资料进行回顾性分析,为老年重症肺炎多药耐药菌感染的临床诊疗提供参考。方法 回顾性分析本院医院76例老年重症肺炎患者的病例信息,将患者随机分为研究组和对照组,每组38例,研究组患者在对照组基础上(头孢哌酮／舒巴坦)联合胸腺肽α1治疗。研究2组患者的痰液致病菌分布及其临床特点,通过对比2组患者治疗前后免疫功能指标T淋巴细胞CD4⁺及炎症因子超敏C-反应蛋白(hypersensitive C-reactive protein,hs-CRP)、白介素-6(interleukin-6, IL-6)、肿瘤坏死因子-α(tumor necrosis factor-α, TNF-α)水平变化,对头孢哌酮/舒巴坦联合胸腺肽α1治疗老年重症肺炎的临床效果进行分析。结果 76例老年重症肺炎患者中,共检出143株病原菌,以不动杆菌属为主的革兰氏阴性菌(89株)为主要致病菌株,占比64.3%,革兰氏阳性菌(54株)以葡萄球菌属为主,占比35.7%;排名前3位的主要致病菌为:铜绿假单胞菌(33.6%)、金黄色葡萄球菌(22.4%)和大肠埃希菌(14.7%)。痰液分离出的致病菌出现了普遍的严重耐药性,主要以多药耐药铜绿假单胞菌为主。2组治疗前 T 淋巴细胞CD4⁺、hs-CRP、IL-6、TNF-α水平对比无差异(P＞0.05),治疗后观察组CD4⁺水平更高,而 CRP、TNF-α、IL-6水平更低,与对照组有差异(P＜0.05)。结论 老年重症肺炎多药耐药菌重症肺炎检出病原菌主要以铜绿假单胞菌为主,治疗上联合使用胸腺肽α1,能够有效改善患者的免疫抑制状态、减轻老年患者机体炎症反应,对于提高老年患者临床治疗效果及改善患者预后有着重要的临床意义,值得广泛推广。

目的 探讨广州地区儿童2019新型冠状病毒(2019 novel coronavirus, 2019-nCoV)感染筛查/疑似病例的流行病学特点、发病特点、可能的原因及防控建议。方法 回顾性分析2020年1月20日—2020年2月29日广州市唯一一家儿童2019-nCoV感染隔离定点医疗单位隔离病房收治住院的符合儿童2019-nCoV感染筛查/疑似病例129例,对其流行病学、发病特点、临床特征、实验室检查及转归、随访等进行总结分析。 结果 男 79例,女 50例,最小1个月,最大13岁,中位数2岁,51例(39.5%)有武汉疫区旅游或居住史,20例(15.5%)有与来自疫区有呼吸道症状人员接触史,17例(13.1%)周边或社区有确诊病例,3例(2.3%)有确诊病人接触史(其中2例为家庭确诊病例密切接触史),38例(29.5%)为临床符合或聚集性发病;临床症状:发热121例(93.8%),咳嗽92例(71.3%),流涕50例(38.8%),32例伴有腹泻、呕吐/腹痛(24.8%),102例(79.0%)白细胞降低或正常,C反应蛋白(C-reactive protein,CRP)＜20 mg/L有103例(79.8%),57例(44.2%)胸片或CT示肺部斑片状影或实变;病原学检查:2019-nCoV实时荧光定量反转录PCR检测结果:所有患儿及陪同家属都有行咽拭子检查,只有21例患儿(16.3%)有行肛拭子检查,仅有1例(0.78%)家庭确诊病例密切接触者肛拭子阳性,但连续多次咽拭子结果阴性,余患者肛拭子和咽拭子及陪同家属咽拭子结果均阴性。其他病原学检查结果61例(47.3%),包括14例RSV阳性,9例流感病毒A,8例人偏肺病毒,6例肠道病毒,6例流感病毒B,6例肺炎支原体,4例副流感病毒1型,1例副流感病毒3型,2例人博卡病毒,3例腺病毒,1例肺炎克雷伯菌,1例人型葡萄球菌,其中1例合并副流感病毒1型及人博卡病毒。跟踪唯一1例确诊患者咽拭子多次检查均阴性,肛拭子持续19天后才转阴,一直无任何症状。其余患者好转出院后第3天、7天及14天进行随访,无异常发现。结论 儿童2019-nCoV感染筛查/疑似病例临床多表现为呼吸道或消化道症状,确诊主要依靠核酸检测,新冠病毒感染确诊率极低,而其将近50%病例能找到除新冠病毒外的其它相关病原体;高危患者为密切接触者,但存在漏诊的可能,肛拭子阳性率或高于咽拭子。

Objective To explore the epidemiological characteristics, onset characteristics, pathogenic mechanism of 2019-nCoV infection in children, and its control and prevention in Guangzhou. Methods From January 20, 2020 to February 29, 2020, a retrospective analysis was carried out on 129 suspected cases of 2019-nCoV infection admitted to the isolation ward of the only medical unit designated for children in Guangzhou. The epidemiology, disease characteristics, clinical characteristics, laboratory examination, outcome and follow-up were summarized and analyzed. Results There were 79 males and 50 females, with a minimum age of 1 month and a maximum age of 13 years. Anong them, 51 cases (39.5%) had a history of tourism or residence in the epidemic area of Wuhan, 20 cases (15.5%) had a history of contact with people with respiratory symptoms from the epidemic area, 17 cases (13.1%) with a confirmed case in the surrounding area or community, 3 cases (2.3%) had a history of contact with a confirmed patient (2 of them were family clustering cases), 38 cases (29.5%) were clinically suspected cases. Clinical symptoms: 121 cases with fever (93.8%), 92 cases with coughing (71.3%), 50 cases with runny nose (38.8%), 32 cases with diarrhea, vomiting or abdominal pain (24.8%). In 102 cases (79.0%), white blood cells were decreased or normal, 103 cases (79.8%) with CRP＜20 mg/L, and 57 cases (44.2%) showed focal infection on chest X-ray or CT scan. Etiological examination: only one case (0.78%) of the family confirmed cases had positive anal swab result, but the throat swab results were negative all the time. The anal swab and throat swab results of other patients and the throat swab results of their accompanying family members were negative. Other pathogens were detected in 61 cases (47.3%), including 14 RSV positive cases, 9 influenza A positive cases, 8 human metapneumovirus positive cases, 6 enterovirus positive cases, 6 influenza B positive cases, 6 Mycoplasma pneumoniae positive cases, 4 parainfluenza virus type 1 positive cases, 1 parainfluenza virus type 3 positive cases, 2 human bocavirus positive cases, 3 adenovirus positive cases, 1 Klebsiella pneumoniae positive cases, 1 Human Staphylococcus positive case, and 1 case with parainfluenza virus type 1 and human bocavirus. The only confirmed patient was followed up while multiple pharyngeal swab results were negative, and the positive anal swab results lasted for 19 days before turning negative and remained asymptomatic. Other patients were followed up on the 3rd, 7th and 14th day after discharge, and no abnormal findings were found. Conclusion Screening/suspected cases of 2019-nCoV infection in children were mostly clinically manifested as respiratory or gastrointestinal symptoms. The diagnosis rate of nucleic acids was extremely low, and there was a possibility of missed diagnosis. Nearly 50% of cases could find other relevant pathogens excluding the 2019-nCoV. The positive rate of anal swab results was higher than that of pharyngeal swab.

目的 探讨性别、年龄、日剂量、合并用药、药物厂家等因素对使用阿立哌唑患者稳态血药浓度的影响,为临床合理用药提供依据。方法 收集深圳市康宁医院2019年1月—2021年2月使用阿立哌唑住院患者血药浓度监测数据样本229份,包括患者性别、年龄、日剂量、合并用药、药物厂家等基本信息,使用SPSS 25.0统计学软件对数据进行回顾性分析。结果 经多元线性回归分析,本研究仅性别、日剂量能解释阿立哌唑血药浓度的变化。使用阿立哌唑患者血药浓度剂量比值(C/D)女性组高于男性组(P＜0.01),阿立哌唑合用丙戊酸盐组高于无合用组(P＜0.05),年龄、其他合并、药物厂家用药对阿立哌唑(C/D)值的影响无统计学差异。结论 阿立哌唑C/D值与性别有关,合并用药对其有一定影响,不同药物厂家的阿立哌唑C/D值无统计学差异,临床应加强治疗药物监测,根据血药浓度及临床诊疗效果,结合药物经济学因素优化给药方案。

Objective To provide the reference for clinical rational use of aripiprazole,to investigate the effects of gender, age, daily dose, concurrent medication, drug manufacturer and other factors on the steady-state serum concentration in aripiprazole patients. Methods Serum concentration monitoring data of 229 inpatients using aripiprazole in Shenzhen Kangning Hospital from January 2019 to February 2021 was collected, including patients' gender, age, daily dose, concurrent medication, drug manufacturer and other basic information, which were retrospectively analyzed by SPSS 25.0 statistical software. Results In this study, only gender and daily dose could explain the significant changes of aripiprazole serum concentration after multiple linear regression analysis. The serum concentration/dose ratio (C/D) was significantly higher in female patients than in male patients (P＜0.01), and the group of aripiprazole combined with valproate was markedly higher than the non-combined group (P＜0.05). Nevertheless, there were no statistically significant differences in the effects of age, concurrent medication and drug manufacturer on aripiprazole C/D values. Conclusions The C/D value of aripiprazole was closely related to gender, and concurrent medication had a certain effect on it. There was no statistical difference in the aripiprazole C/D value among different drug manufacturers. This study suggested that clinical monitoring of therapeutic drugs should be strengthened, and the prescription should be optimized based on serum concentration and therapeutic efficacy, combined with pharmacoeconomic factors.

目的 探究血清C反应蛋白与白蛋白比值(CRP/ALB)、中性粒细胞与淋巴细胞比值(NLR)、血糖不稳定指数(GLI)水平对重症肺炎患者预后的预测价值。方法 将我院2020年1月—2021年5月收治的126例重症肺炎患者作为研究对象,根据入院治疗28 d的预后情况,分为存活组(93例)和死亡组(33例)。对比2组患者的一般资料,采用多因素Logistic分析重症肺炎患者高危因素,应用ROC曲线评估血清CRP/ALB、NLR、GLI水平对重症肺炎患者预后的预测价值。结果 2组患者一般资料对比,NEU、CRP、APACHEⅡ、CRP/ALB、NLR、GLI水平差异有统计学意义(P<0.05);多因素Logistic回归分析显示APACHEⅡ评分、血清CRP/ALB、NLR、GLI水平是重症肺炎患者死亡的危险因素;ROC曲线分析结果显示,CRP/ALB、NLR、GLI曲线下面积分别为0.837,0.826,0.837。结论 CRP/ALB、NLR、GLI水平对重症肺炎患者预后均具有较高的预测价值,其中以CRP/ALB的预测价值最佳。

Objective To explore the prognostic predictive value of serum CRP/ALB, NLR and GLI in patients with severe pneumonia. Methods A total of 126 patients with severe pneumonia treated in our hospital from January 2020 to May 2021 were divided into survival group (93 cases) and death group (33 cases) according to the prognosis of 28 days of hospitalization. The general data of the two groups were compared, the high-risk factors of patients with severe pneumonia were analyzed by multivariate logistic, and the predictive value of serum CRP/ALB, NLR and GLI levels on the prognosis of patients with severe pneumonia was evaluated by ROC curve. Results There were significant differences in the levels of NEU, CRP, APACHE Ⅱ, CRP/ALB, NLR and GLI between the two groups (P<0.05); multivariate logistic regression analysis showed that APACHE Ⅱ score, serum CRP/ALB, NLR and GLI were the risk factors of death in patients with severe pneumonia; ROC curve analysis showed that the areas under CRP/ALB, NLR and GLI curves were 0.837, 0.826 and 0.837 respectively. Conclusions The levels of CRP/ALB, NLR and GLI had high predictive value in the prognosis of patients with severe pneumonia, among which CRP/ALB had the best predictive value.

目的 探讨p16/Ki-67染色、HPV E6/E7mRNA和联合检测对HSIL+病变诊断的临床价值。方法 募集2017年3月—2020年8月期间,于中山市博爱医院妇产科就诊,组织学证实为宫颈炎患者209例、LSIL患者169例、HSIL患者131例和宫颈癌患者86例作为研究对象,回顾分析研究对象术前细胞学样本p16/Ki-67染色、HPV E6/E7mRNA检测结果,纵向比较p16/Ki-67染色、HPV E6/E7mRNA和联合检测在不同级别宫颈病变的阳性率的差异,横向比较p16/Ki-67染色、HPV E6/E7mRNA和联合检测在相同宫颈病变的阳性率的差异,综合评估p16/Ki-67染色、HPV E6/E7mRNA和联合检测诊断HSIL+病变效能的差异。结果 ①纵向比较:p16/Ki-67染色、HPV E6/E7mRNA和联合检测阳性率随宫颈病变程度的加重呈趋势性升高(p16/Ki-67染色:χ²=374.34,P<0.001;HPV E6/E7mRNA检测:χ²=289.21,P<0.001;联合检测:χ²=343.90,P<0.001)。②横向比较:在宫颈炎、LSIL、宫颈癌组,p16/Ki-67染色、HPV E6/E7mRNA和联合检测阳性率之间差异均不具有统计学意义(均P>0.05)。在HSIL组,p16/Ki-67染色和联合检测之间阳性率差异有统计学意义(χ²=8.09,P=0.004); HPV E6/E7mRNA和联合检测之间阳性率差异有统计学意义(χ²=11.30,P=0.001)。③p16/Ki-67染色、HPV E6/E7mRNA和联合检测诊断HSIL+的灵敏度,总体差异有统计学意义(χ²=7.69,P=0.021)。p16/Ki-67染色与联合检测法之间的灵敏度差异有统计学意义(χ²=7.29,P=0.007);HPV E6/E7mRNA检测与联合检测法之间的灵敏度差异有统计学意义(χ²=4.84,P=0.028)。p16/Ki-67染色、HPV E6/E7mRNA和联合检测诊断HSIL+的特异度及符合率的总体差异不具有统计学意义(χ²₁=5.38,P₁=0.068;χ²₂=0.93,P₂=0.628)。结论 p16/Ki-67染色、HPV E6/E7mRNA 和联合检测均可有效筛出HSIL+病变,但是联合检测能显著提高HSIL+病变诊断的灵敏度,降低漏诊率,同时保持了较好的特异度和符合率,建议将p16/Ki-67染色和HPV E6/E7mRNA联合检测作为早期诊断HSIL+病变的策略。

Objective To investigate the clinical value of p16/Ki-67 staining E6/E7 mRNA and combined detection in the diagnosis of HSIL+ lesions. Methods From March 2017 to August 2020,209 cases of cervicitis,169 cases of LSIL,131 cases of HSIL and 86 cases of cervical cancer confirmed by histology were selected as the research objects. The results of p16/Ki-67 staining and HPV E6/E7 RNA detection of the preoperative cytological samples were retrospectively analyzed and the p16/Ki-67 staining and HPV E6/E7 mRNA detection results were compared longitudinally. The positive rates of E6/E7mRNA and combined detection in different grades of cervical lesions were compared.The positive rates of p16/Ki-67 staining,HPV E6/E7 mRNA and combined detection in the same cervical lesions were compared horizontally.The differences in the diagnostic efficacy of p16/Ki-67 staining,HPV E6/E7 mRNA and combined detection in the diagnosis of HSIL+lesions were comprehensively evaluated. Results ①Longitudinal comparison:the positive rates of p16/ Ki-67 staining, HPV E6/E7mRNA and combined detection increased with the severity of cervical lesions(p16/Ki-67 staining:χ²=374.34,P<0.001;HPV E6/E7 mRNA detection:χ²=289.21,P<0.001;joint detection:χ²=343.90,P<0.001). ②Transverse comparison: in cervicitis, LSIL and cervical cancer groups,there were no significant differences in the positive rates of p16/Ki-67 staining, HPV E6/E7 mRNA and combined detection (all P>0.05). In the HSIL group,there was significant difference in the positive rate between p16/Ki-67 staining and combined detection (χ²=8.09,P=0.004)and the difference between HPV E6/ E7 mRNA and combined detection was statistically significant(χ²=11.30,P=0.001). ③The sensitivity of p16/Ki-67staining,HPV E6/E7 mRNA and combined detection in the diagnosis of HSIL+ was statistically significant(χ²=7.69,P=0.021). The sensitivity difference between p16/Ki-67 staining and combined detection was statistically significant(χ²=7.29,P=0.007);the sensitivity difference between HPV E6/E7 mRNA detection and combined detection method was statistically significant (χ²=4.84,P=0.028). There was no significant difference in the specificity and coincidence rate of p16/Ki-67 staining,HPV E6/E7 mRNA and combined detection in the diagnosis of HSIL+(χ²₁=5.38,P₁=0.068;χ²₂=0.93,P₂=0.628). Conclusion P16/Ki-67 staining,HPV E6/E7 mRNA and combined detection may effectively screen out HSIL+ lesions,reduce the missed diagnosis rate, but the combined detection may significantly improve the sensitivity of diagnosis of HSIL+ lesions, while maintaining good specificity and coincidence rate.It is suggested that p16/Ki-67 staining and HPV E6/E7 mRNA detection should be used as a strategy for early diagnosis of HSIL+ lesions.

目的 对首发短暂性脑缺血发作(TIA)及缺血性轻型卒中的患者进行认知功能分析,评估其认知损害程度及常见的认知损害领域,以便制定早期的认知功能康复计划,减少痴呆的发生。方法 纳入起病10天内的首发TIA及缺血性轻型卒中患者,完善MMSE和MoCA评分,把MMSE评分正常者划分为MoCA正常组和MoCA异常者,比较两组的认知功能损害程度及损害领域。结果 纳入142例患者,MMSE正常者113例,其中MoCA正常组83例,MoCA异常组30例。两组的认知功能比较,在视空间/执行功能、命名、注意力、计算、延迟记忆、定向力等方面的差异有统计学意义(P＜0.05),在言语流畅、抽象思维方面的差异无统计学意义(P＞0.05)。结论 TIA/轻型卒中患者存在多方面不同程度的认知功能损害,临床上需重视对该类患者的认知筛查,及时了解患者认知功能的变化,以便给予及时的诊断和治疗。

Objective To analyze the cognitive impairment among the paitents with TIA and minor ischemic stroke for the first attack. Making a recovery plan in early time by eveluating the degree and domains of the cognitive impairment, so as to reduce the prevelance of dimentia. Methods Patients with TIA and minor ischemic stroke for the first attack in 10 days were included. MMSE and MoCA were completed, we sorted out the normal MMSE patients and divided them into MoCA normal group and MoCA abnormal group, compared the cognitive function between the two groups. Results 142 patients were included. Among them 113 patients' MMSE were normal, in which MoCA normal group were with 83 patients and MoCA abnormal group with 30 patients. There were significant differences between them in visuospatial and executive function, naming, attention, caculation, delay memory and orientation(P＜0.05), while no significant difference in language fluency and abstraction(P＞0.05). Conclusion Cognitive impairment of TIA/minor ischemic stroke patients was in different degree, so we should pay more attention to their cognitive function and give them an in-time diagnosis and treatment.

目的 构建靶向CXCR7基因的CRISPR/Cas9基因编辑系统,并应用于HEK 293T细胞系。方法 设计两对靶向CXCR7基因的sgRNAs,分别插入PX458载体中,并转化DH5α大肠埃希菌。经菌液PCR和测序验证,挑选序列正确的sgRNA-CXCR7-PX458质粒,转染HEK 293T细胞,用流式分选转染阳性细胞,提取其DNA,PCR扩增后测序验证。结果 经测序验证,成功构建了靶向CXCR7基因的CRISPR/Cas9系统,转染HEK 293T细胞后,测序鉴定发现成功编辑CXCR7基因。结论 成功构建了靶向CXCR7的sgRNA-CXCR7-PX458质粒,可在HEK 293T上成功编辑CXCR7基因,为进一步的功能研究奠定基础。

Objective To construct the CRISPR/Cas9 gene editing system targeting C-X-C chemokine receptor 7 (CXCR7) gene and to edit CXCR7 gene in 293T cell line. Methods Two pairs of small guide RNAs (sgRNAs) targeting CXCR7 gene were designed and inserted into PX458 vector, which were transformed into host bacterium Escherichia coliDH5α. The correct sgRNA-CXCR7-PX458 plasmids were selected by PCR and further Sanger sequencing verification. HEK 293T cell line was transfected by DNA of sgRNA-CXCR7-PX458 plasmid. After 72 hours,GFP-positive cells were sorted by flow cytometry. We did DNA extraction of the GFP-positive cells and amplified the CXCR7 gene corresponding fragment by PCR and investigated the CXCR7 gene editing results by Sanger sequencing. Results The CRISPR/Cas9 system targeting CXCR7 gene was successfully constructed. After 293T cells were transfected, the CXCR7 gene was edited in HEK 293T cells successfully. Conclusion The sgRNA-CXCR7-PX458 plasmid targeting CXCR7 gene was successfully constructed. The CRISPR/Cas9 gene editing system targeting CXCR7 gene were used on the HEK 293T cell line, which lays a foundation for further study of BCOR function.

目的 运用传统中医药理论,用中西医结合的方法,探讨简便中药结合肠内营养(EN)的支持方式对胃肠道肿瘤术后营养状况和炎性反应的影响,及改善胃肠道功能的作用。方法 胃肠道肿瘤术后患者随机分为黄陈枳术汤结合肠内营养组(观察组)和单纯肠内营养组(对照组)作对比研究,观察两组病人营养支持前后营养指标视黄醇结合蛋白(RBP),血清白蛋白(ALB)及炎性指标C反应蛋白(CRP)的改善情况,观察两组病人恶心、呕吐、腹胀、腹泻等胃肠道症状发生情况。结果 营养支持后RBP,ALB均有升高,观察组病人营养支持后第7、14天RBP和ALB水平均高于对照组,CRP低于对照组,差异有统计学意义(P＜0.05)。两种病人均有胃肠道不良反应,但观察组胃肠道并发症发生率较低,差异有统计学意义(P＜0.05)。结论 黄陈枳术汤结合肠内营养的中西医结合营养支持方法能纠正胃肠道功能紊乱,提高营养支持疗效,对胃肠道肿瘤术后患者的RBP和ALB有提高作用,能降低CRP,减少炎性反应,促进患者快速康复,缩短住院时间。

Objective Using a combination of Chinese and western medicine, to explore the effect of Huang Chen Zhisu decoction combined with enteral nutrition on RBP/ALB/CRP of gastrointestinal tumor patients after surgery,and improve gastrointestinal disorders. Methods Postoperative patients of gastrointestinal tumor were randomized into Huangchen Zhisu decoction combined with enteral nutrition group(observation group)and enteral nutrition group(control group). The retinol-binding protein(RBP),albumin(ALB),C-reactive protein (CRP),gastrointestinal symptoms, adverse reaction were observed and recorded. Results After nutrition support, the level of ALB and RBP were both increased. The ALB and RBP of the observation group on the 7th and 14th day after nutrition support were higher than those of the control group.The CRP of the observation group on the 7th and 14th day after nutrition support were lower than the control group, (P<0.05).The rate of postoperative gastrointestinal disorder of the observation group was obviously lower (P<0.05). Conclusion Huangchen Zhisu decoction combined with enteral nutrition has remarkable effect,can enhance the ALB and RPB, reduce CRP. The effect was better than enteral nutrition only. It improves the nutritional status and immune function,helps to promote the resumption on of gastrointestinal function,and helps postoperative patient for a quicker recovery.

目的 探讨MDS、MDS/AML及原发AML基因突变频谱的异同点及其临床意义。方法 选取98例MDS患者、32例MDS/AML患者及234例原发AML患者为研究对象,利用二代测序技术检测基因突变。结果 MDS组中突变率较高的基因突变为TET2(16.7%,16/96)、U2AF1(12.0%,6/50)、SF3B1(11.8%,9/76);MDS/AML组中突变率较高的基因突变为TP53(33.3%,2/6)、DNMT3A(30%,6/20)、IDH2(21.1%,4/19);原发AML组中突变率较高的基因突变为FLT3-ITD(18.0%,42/233)、NPM1(16.3%,38/233)、DNMT3A(14.9%,14/94)。DNMT3A(P=0.006)、IDH2(P=0.004)及NPM1(P=0.002)等基因突变在MDS与MDS/AML两组间的突变率有统计学差异;FLT3-ITD(P=0.001)、NPM1(P=0.002)、CEBPA(P=0.011)及IDH2(P=0.019)等基因突变在MDS与原发AML两组间的突变率有统计学差异;所有受检基因突变在MDS/AML与原发AML两组间的基因突变的突变率无统计学差异(P＞0.05)。结论 MDS、MDS/AML及原发AML基因突变的突变频谱具有相似性及异质性,从MDS到MDS/AML、原发AML基因突变的变化不仅影响疾病转归及预后而且可帮助鉴别MDS/AML和原发AML。

Objective To explore the similarities and differences of spectrum of gene mutations in patients with myelodysplastic syndrome, MDS/AML and de novo acute myeloid leukemia and their clinical significance. Methods 98 patients with MDS, 32 patients with MDS/AML, 234 patients with de novo AML were selected. Gene mutations were detected by second generation sequencing. Results The most frequent mutations in MDS were as follows:TET2(16.7%, 16/96), U2AF1(12.0%, 6/50), SF3B1(11.8%, 9/76); The most frequent mutations in MDS/AML were TP53(33.3%, 2/6), DNMT3A(30%, 6/20), IDH2 (21.1%, 4/19);The most frequent mutations in de novo AML were FLT3-ITD(18.0%, 42/233), NPM1(16.3%, 38/233), DNMT3A(14.9%, 14/94); DNMT3A(P=0.006),IDH2(P=0.004) and NPM1(P=0.002) were statistical difference between MDS and MDS/AML; FLT3-ITD(P=0.001),NPM1(P=0.002),CEBPA(P=0.011) and IDH2(P=0.019) were statistical difference between MDS and de novo AML;There were no siatistical significance (P>0.05) in the frequency of all detected gene mutations between MDS/AML and AML. Conclusion The spectrum of gene mutation of MDS, MDS/AML and primary AML have similarities and heterogeneity.The changes of gene mutations from MDS to MDS/AML and de novo AML not only affect disease outcome and prognosis, but also help to identify MDS/AML and de novo AML.