急性红白血病（M6）的MIC分型和临床疗效观察

目的了解急性红白血病（AEL）的分型和临床疗效的关系方法对116例AEL的形态学、免疫表型、细胞遗传学进行分析并观察临床化疗效果。结果外周血和骨髓大都有三系病态造血，部分有前驱MDS病史，患者白血病细胞56％以上表达CD13、CD33、CD11b、CD34、CD38，有28例血型糖蛋白A（GPA）抗体检测阳性，58．4％的患者有染色体的异常。复杂异常多见，累及5、7、8号为主，化疗总有效率43．3％，CR率42．6％，有复杂核型异常的CR率20％。结论AEL不良的预后与其生物学特性有关。     

CD11a在急性白血病中表达的临床意义

目的：观察粘附分子CD11a在急性白血病细胞的表达变化及其临床意义。方法：用流式细胞术分析27例急性淋巴细胞白血病（ALL）、30例急性非淋巴细胞性白血病（ANLL）及8名正常人骨髓单个核细胞CD11a的表达。结果：（1）与正常造血细胞比较，CD11a在ALL、ANLL的表达均下降（P＜0．01）。（2）CD11a的表达与急性白血病分型有关，在B－ALL表达明显低于T－ALL（P＜0．01），在M1、M3尤其是M3的表达明显低于M4、M5（P＜0．01）。（3）CD11a高表达与白血病髓外浸润密切相关，浸润组CD11a表达明显高于非浸润组（P＜0．01），CD11a高表达者浸润发生率也高。（4）未发现CD11a的表达与治疗后CR率相关。结论：CD11a在急性白血病细胞的表达异常，表达水平与白血病分型及临床特征相关。     

急性髓系白血病染色体核型及免疫表型分布及治疗后临床疗效分析

目的 探讨急性髓系白血病染色体改变在急性髓系细胞白血病诊断及预后的意义.方法 对48例急性髓系白血病患者进行染色体核型分析及免疫表型分析,并评估治疗后的临床疗效.结果 异常核型32例(67％),其中M3患者100％检出t(15;17),M2患者中t(8;21)多见,三体8在数目异常中最为常见.45例初诊AML患者中,共13例患者CD96 (28.9％)表达阳性,15例患者CD123 (33.3％)表达阳性,CD96及CD123与染色体异常存在显著相关性(r=0.376,0.498,P＜0.05).参与治疗的41例患者中首次治疗完全缓解率为46％,核型低危组、中危组、高危组首次完全缓解率分别为58％、43％、37％,其中参与治疗的8例t(15;17)M3患者首次完全缓解率为88％.结论 患者免疫表型与染色体核型具有较好相关性,相关检测对于急性髓系白血病的诊断及预后评估具有重要意义.     

白血病相关表型在非M3-AML中的表达及其与预后的关系

目的 探讨白血病相关免疫表型在非M3急性髓细胞性白血病(非M3-AML)中的表达及预后意义.方法 应用流式细胞仪检测147例非M3-AML患者白血病相关表型特征的表达,同时与外周血白细胞计数、骨髓增殖异常综合征病史或多系病态造血、染色体核型及老年等预后相关因素及临床完全缓解率进行比较.结果 CD33+CD7+ 和(或)...     

GM—CSF受体在白血病中的表达及意义

目的：了解GM－CSF受体（CD116）在急性白血病中的表达及其临床意义。方法：对114例急性白血病患进行免疫表型、细胞遗传学分析。结果：CD116在ALL中无阳性表达,而在AML中表达率为42．4％,CD116在FAB各亚型间的出现频率存在明显差异,M5中阳性率最高为83．3％,M4为40％,M3、M2分别为27．2％、15．0％。CD116＋AML中未见特异性染色体异常,但M5患2例出现＋8异常,均在CD116＋组。结论：CD116主要表达在髓系白血病,且与具有单核细胞特征的白血病相关,CD116、CD4联合染色体＋8有利于M5亚型的诊断。     

急性髓细胞白血病M2亚型细胞形态学及细胞遗传学分析

目的:了解急性粒细胞白血病AML-M2亚型的细胞形态学及细胞遗传学特征.方法:对23例以FAB分类标准确诊的AML-M2初发患者的细胞形态学及细胞遗传学资料进行回顾性分析;应用骨髓细胞短期培养法制备染色体标本,以R显带技术进行核型分析.结果:34%M2a、92%M2b患者白血病细胞内可见Auer小体,Auer小体在M2b患者细胞中检出率明显高于M2a患者;M2患者白血病细胞POX染色呈强阳性反应,在M2a细胞表达多为弥散细颗粒状,而在M2b呈局灶团块状.23例患者中18例有克隆性染色体异常,异常核型检出率78.3%(18/23).16例M2a患者无一致性的染色体异常.7例M2b患者均有特异性的t(8;21)异常,其中3例伴有y染色体丢失.结论:M2白血病组内异质性较大,M2a和M2b似乎具有各自独特的细胞形态学及细胞遗传学特性.     

染色体t(15;17)检测在诊断急性早幼粒细胞白血病中的意义

目的探讨染色体t(15;17)检测在急性早幼粒细胞白血病(APL)中的意义。方法对11例住院的APL患者以FAB分类方案进行形态学检查,以流式细胞术检测白血病免疫表型,应用常规细胞遗传学进行核型分析。结果11例中有7例形态学诊断M3,2例拟诊断M4,1例诊断M5,1例诊断M2b。免疫表型CD13 11例、CD33 9例、CD117 6例、CD34 1例,CD19、CD20、CD7、HLA-DR均阴性,遗传学核型分析染色体t(15;17)10例,正常核型1例。结论对于形态学诊断或无法鉴别的APL进行免疫表型,尤其是进行细胞遗传学核型分析,其阳性率、特异性高,可以提高确诊率,并为治疗提供可靠的实验室依据。     

126例急性白血病患者染色体核型分析与临床意义

目的 研究急性白血病（AL）的细胞遗传学特征及其与临床的关系和意义。方法 分析126例AL初治患者骨髓染色体核型，采用直接培养法或24／48h短期培养法G显带技术检测染色体。结果 AML中M3的核型畸变率最高，M6最低，t（15；17）最多且仅见于M3，t（8；21）见于M2、M4、M4EO、M5，＋8异常见于AMLM2、M3、M4、M5、M6各亚型。t（15；17）组缓解率为93．3％，t（8；21）组为75．0％，其它核型异常组为52．0％，三组疗效比较差异有显著性，P〈0．05。其中t（15；17）组与其它核型异常组比较差异有显著性，P〈0．017；t（15；17）组与t（8；21）组比较、t（8；21）组与其它核型异常组比较差异均无显著性意义，P均〉0．05．AML正常核型组缓解率为72．5％．12例t（15；17）患者中7例（58．3％）WT1基因为阴性，缓解率为100．0％，5例（41．7％）为阳性，缓解率为75．0％．6例t（8；21）患者中4例（66．7％）WT1基因为阴性，缓解率为100．0％，2例（23．3％）为阳性，缓解率为50．O％．ALL双Ph染色体异常2例，均为NR，且1例经行外周血干细胞移植仍未达到缓解。结论 染色体研究对白血病的疗效及预后判断有重要意义；AML核型是否正常与WT1基因阳性率无关，t（15；17）和t（8；21）两组WTI（一）患者缓解率高于WT1（＋）患者。     

累及单核细胞系急性白血病的免疫表型和遗传学研究

目的　探讨急性髓系白血病-M4、M5亚型的细胞遗传学、免疫表型特征。方法　应用染色体G显带、间期荧光原位杂交技术和流式细胞术对30例M4、M5患者进行遗传学分析和免疫表型检测。结果　染色体分析:30例M4、M5中共发现13例伴有11q2 3染色体异常,总发生率为4 3 3% ,其中M5a 1例、M5b 8例、M4b 4例,异常核型有6种:t (11;19) 4例;t(11;17) 2例;t(9;11) 2例;t(10 ;11) 1例;t(6 ;11) 1例;t(11;?) (q2 3;?) 1例;del(11)(q2 3) 2例。I-FISH检测MLL基因异常共13例阳性,其中M5 8例,M4 5例。免疫表型检测各种抗原阳性率依次为HLADR(92 % ) ,CD33(92 % ) ,CD6 4 (85 % ) ,CD11b(80 % ) ,CD15 (79% ) ,CD117(79% ) ,CD13(6 9% ) ,CD34(6 1% ) ,CD5 6 (38 5 % ) ,CD14 (31% ) ,CD3(14 % ) ,CD2 (7% ) ,CD7(7% )。结论　11q2 3异常在AML -M5 /M4中发生率高,该组患者高表达早期干祖细胞标志CD34、CD117、HLA -DR ,具有独特的遗传学、免疫学特点。     

急性淋巴细胞白血病49例染色体核型和免疫分型的分析

目的探讨急性淋巴细胞白血病（ALL）患者染色体异常及免疫分型与疗效的关系。方法对49例ALL患者骨髓进行染色体及免疫分型分析。结果儿童ALL伴有t（9;22）异常核型的检出率明显低于成人ALL（P〈0．05）,但疗效差异无统计学意义（P〉0．05）;伴有t（9;22）的异常核型与正常核型ALL疗效比较差异有统计学显著意义（P〈0．05）;伴或不伴有髓系抗原表达的ALL疗效比较差异无统计学意义（P〉0．05）。结论ALL患者染色体核型异常的检出率较高,较常见的核型异常为t（9;22）;核型异常与疗效有一定的关系,伴有t（9;22）核型异常的ALL疗效差,而其它异常核型的ALL疗效间差异无统计学意义（P〉0．05）。     

急性单核细胞白血病CD56、CD11b表达及临床意义

目的 探讨细胞表面分化抗原CD56、CD11b在急性单核细胞白血病(AML-M_5)的表达及临床意义.方法 采用流式细胞术,G 显带技术进行核型分析,双色混合谱系白血病(MLL)基因探针和间期荧光原位杂交(I-FISH)技术,对113例初治成人AML-M_5患者进行免疫学和细胞遗传学检测,并回顾分析其临床资料.结果 113例患者中CD56表达率28.32%(32例),CD11b表达率73.45%(83例),CD56~+患者高表达CD11b(P<0.01),且CD11b的表达水平与CD56呈正相关(P<0.05);113例患者中异常核型患者占48.67%(55例),其中伴11q23异常者占22.12%(25例):I-FISH检测MLL阳性25例;CD56、CD11b共表达的患者比CD56、CD11b双阴性患者外周血白细胞计数、骨髓原始加幼稚细胞数高(P<0.01);前者多合并异常核型,以累及11q23异常常见(P<0.05);较后者容易出现浸润表现、多为难治性白血病患者(P<0.01);且前者完全缓解率及中位生存期均较后者低(P<0.01);CD56~+患者与CD11b~+患者相比,前者合并异常核型及难治性白血病较后者多(P<0.05),而在外周血白细胞计数、骨髓原始加幼稚细胞数、髓外浸润、完全缓解率及中位生存期均无差别(P＞0.05).结论 CD56~+、高表达CD11b的AML-M_5患者易出现异常核型,以累及11q23/MLL基因异常多见,易合并髓外浸润,且多为难治性患者,预后较差.

Abstract：

Objective To investigate the expressions of cell surface differentiation antigen CD56 and CD11b antigen in acute monocytic leukemic (AML-M_5) cells and their clinical significance. Methods A total of 113 cases of de nove adult AML-M_5 were examined genetically and immunologically using G-banding technique, interphase fluorescence in situ hybridization (I-FISH) and flow cytometry immunophenotyping, and the results were analyzed in relation to their clinical data. Results Of the 113 cases, the expression rates of CD56 and CD11b was 28.32% and 73.45%, respectively. The CD56+ patients had high CD11b expression, and the expression levels of CD11b and CD56 were positively correlated (P<0.05). The incidence of karyotypic abnormalities was 48.57% (55 cases) in these patients, including 25 (22.12%) with 11q23 aberrations. Twenty-five cases were positive for MLL gene abnormalities as found by I-FISH analysis. Compared with the patients positive for both CD56 and CD11b, those negative for both CD56 and CD11b showed increased peripheral blood white blood cell (WBC)count and also increased blast and progenitor cells in the bone marrow (P<0.05); the former patients often had karyotypic abnormalities, commonly involving 11q23 aberrations (P<0.05), whereas the latter patients presented more likely with extramedullary infiltration and refractory leukemia (P<0.01) with lowered complete remission rate and shortened median survival time (P<0.01). CD56-positive patients were more likely to have karyotypic abnormalities and refractory leukemia than CD11b-postive patients (P<0.05), but the peripheral blood WBC counts, bone marrow blast and progenitor cells,extramedullary infiltration, complete remission rate or median survival time showed no significant differences between them (P>0.05). Conclusion AML-M_5 patients with CD56 positivity and high expression of CD11b often have aberrant karyotypes,commonly involving 11q23/MLL gene abnormality. These patients frequently develop extramedullary infiltration and refractory leukemia often with poor prognosis.     

阵发性睡眠性血红蛋白尿症患者CD34+CD59-与CD34+CD59+细胞膜EPO、TPO受体后STAT5磷酸化水平的关系

目的 观察阵发性睡眠性血红蛋白尿症(PNH)患者骨髓CD34+CD59+和CD34+CD59-细胞膜促红细胞生成素(EPO)受体(EPOR)、血小板生成素(TPO)受体(TPOR)后信号转导通路中信号转导和转录激活因子(STAT)5磷酸化水平.方法 应用流式细胞术分别检测2010年4月至2011年2月天津医科大学总医院血液肿瘤科PNH患者23例及11名健康对照骨髓单个核细胞(BMMNC)经和不经10 U/ml EPO、50 U/ml TPO刺激后CD34+CD59-和CD34+CD59+细胞磷酸化STAT5(P-STAT5)的平均荧光强度(MFI).结果 (1)未加入细胞因子时,PNH患者CD34+CD59-细胞P-STAT5的MFI为31±15,明显低于 CD34+CD59+细胞(74±47,P<0.01)及健康对照组CD34+CD59+细胞(59±23,P<0.05);PNH患者CD34+CD59+细胞P-STAT5的MFI与健康对照组CD34+CD59+细胞比较差异无统计学意义(P>0.05).(2) EPO、TPO刺激后,PNH患者CD34+CD59-细胞P-STAT5的MFI分别为49±24、51±41,明显低于CD34+CD59+细胞(120±82、124±87,均P<0.01)及健康对照组CD34+CD59+细胞(79±47、98±53,均P<0.05),PNH患者CD34+CD59+细胞P-STAT5的MFI与健康对照组CD34+CD59+细胞比较差异无统计学意义,经EPO、TPO刺激后PNH患者CD34+CD59+细胞P-STAT5的增高值分别为49±11、54±43,明显高于CD34+CD59-细胞(17±4、16±6,均P<0.01).结论 体外予EPO、TPO刺激,PNH患者正常克隆造血干细胞(CD34+CD59+)EPO、TPO受体后信号转导通路中STAT5磷酸化水平明显优于异常克隆造血干细胞(CD34+CD59-).

Abstract：

Objective To study the STAT5 phosphorylation levels of erythropoietin receptor (EPOR) and thrombopoietin receptor (TPOR) in CD34+CD59- and CD34+CD59+ bone marrow cells of the patients with paroxysmal nocturnal hemoglobinuria (PNH).Methods The bone marrow mononuclear cells (BMMNC) were extracted from 23 PNH patients treated at our department from April 2010 to February 2011 and 11 normal controls. The mean fluorescence intensity (MFI) of phosphorylated STAT5 (P-STAT5) in CD34+CD59+cells and CD34+CD59-cells with or without the stimulation of 10 U/ml EPO and 50 U/ml TPO were examined by flow cytometry.Results (1)Without stimulation, the P-STAT5 MFI in CD34+CD59- cells of PNH patients was significantly lower than that of CD34+CD59+cells (31±15 vs 74±47, P<0.01). And it was 59±23 in normal control CD34+CD59+cells (P<0.05). No statistic difference existed between the CD34+CD59+cells of PNH patients and the normal control CD34+CD59+cells. (2)Under the stimulations of EPO and TPO, the P-STAT5 MFI was significantly lower in CD34+CD59-cells of PNH patients than that of CD34+CD59+cells (49±24 and 51±41 vs 120±82 and 124±87, both P<0.01). For the normal control CD34+CD59+cells, they were 79±47 and 98±53 respectively (P<0.05).No statistic difference existed between the CD34+CD59+cells of PNH patients and the normal control CD34+CD59+cells. P-STAT5 MFI was elevated after the stimulations of EPO and TPO. The increments of CD34+CD59+cells in PNH patients were significantly higher than those of CD34+CD59-cells (49±11 and 54±43 vs 17±4 and 16±6, both P<0.01).Conclusion Under the in vitro stimulations of EPO and TPO, the STAT5 phosphorylation levels of EPO and TPO receptors in normally cloned hematopoietic stem cells in PNH patients are obviously superior to those in abnormally cloned counterparts.     

急性髓系白血病与低胆固醇血症

分析了52例急性髓系白血病(AML)患者的血浆总胆固醇(T-chol)水平,发现初发患者的血浆T-chol水平明显低于正常对照组,并与外周血白细胞数和白血病细胞所占比例呈负相关,单核细胞型AML患者血浆T-chol水平最低,经治疗完全缓解后血浆T-chol浓度明显上升。表明AML的低胆固醇血症与肿瘤细胞负荷和肿瘤细胞亚型有关。     

APP、Fis1、KLRF1和PDCD7基因在急性髓系白血病中的表达及临床意义

目的 探讨淀粉样前体蛋白(APP)、裂殖1同源物(Fis1)、杀伤细胞凝集素样受体亚家族F成员1(KLRF1)和细胞程序性死亡7(PDCD7)mRNA在急性髓系白血病(AML)细胞中的表达及其预后意义.方法 抽取34例AML及10例非恶性血液病患者骨髓.提取总RNA并逆转录成cDNA,SYBR Green I实时定量PCR法检测各基因mRNA表达水 平,采用2-~(△Cr)公式计算基因mRNA相对表达量.结果 AML患者组PDCD7mRNA表达水平均显著高于对照组(Z=-2.213,P=0.027).除M1(1例)、M2a(2例)外的AML各亚型基因表达同对照组比较,APPmRNA在伴有t(8,21)染色体异常的M2表达显著高于对照组(Z=-2.197,P=0.028),而在M4b和M5b中的表达则显著低于对照组(Z=-2.368,P=0.018).APP mRNA在AML亚型间表达有差异,M2显著高于M4和M5(Z=-2.430,P=0.015;Z=-3.175,P=0.001).结论 AML患者高表达PDCD7基因,单核细胞白血病患者低表达APP基因.

Abstract：

Objective To investigate the expression of amyloid precursor protein (APP), Fis1, PDCD7 and KLRF1 mRNA in acute myeloid leukemia (AML) and their prognostic significances. Methods Thirty-four AML patients and 10 patients with nonmalignant hematologic diseases (control group) were recruited in this study. Bone marrows were obtained from these patients to isolate the mononuclear cells, from which total RNA was extracted and reverse transcribed into cDNA. SYBR Green Ⅰ dye-based real-time quantitative PCR method was used to compare the expression of APP, Fis1, PDCD7 and KLRF1 mRNA between two groups. Results The expression level of PDCD7 mRNA in AML patients was significantly higher than that in the control group (Z=-2.213,P=0.027), but APP, Fisl and KLRF1 mRNA expression levels were similar between the two groups (P<0.05). The expression level of APP mRNA in M2 patients with t (8, 21) chromosomal abnormality was significantly higher than that in the control group (Z=-2.197, P=0.028), while APP mRNA expressions in M4b and M5b patients were both lower than those in the control group (Z=-2.368, P-0.018). The expression of APP mRNA differed significantly between the subtypes of AML, higher in M2 than in M4b and M5b (Z=-2.430, P=0.015; Z=-3.175, P=0.001, respectively). Conclusions The expression of PDCD7 mRNA increased significantly in AML patients, and APP mRNA expression is decreased in monocytic leukemia.     

Transformation of myelodysplastic syndromes into acute myeloid leukemias

Background Myelodysplastic syndromes (MDSs), also called preleukemias, are a group of myeloid hematopoietic malignant disorders. We studied the transformation of MDS into acute myeloid leukemia (AML).Methods Leukemic transformation in 151 patients with MDS was dynamically followed up. The clinical manifestation, peripheral blood and bone marrow condition, karyotypes, immunophenotypes, response to treatment, and prognosis of AML evolution from MDS (MDS-AML) were also observed.Results During the course of this study, over the past eight years and seven months, 21 (13.91%) of 151 MDS patients progressed to overt leukemia, with a median interval of 5 (1-23) months. There were no significant differences between rates of leukemic transformation in comparison with the refractory anemia (RA), RA with excess of blasts (RAEB), and RAEB in transformation (RAEB-t) patient groups. Transformation occurred either gradually or rapidly. There were five parameters positively correlated to leukemic transformation: under 40 years of age, pancytopenia of 3 lineages, more than 15% blasts in the bone marrow, at least two abnormal karyotypes, and treatment with combined chemotherapy. All of the 21 patients with leukemia suffered from MDS-AML, and most of them were M2, M4, or M5. Two (9.52%) MDS-AML patients developed extramedullary infiltration. Leukopenia was found in 47.62% of these patients. Two thirds of these patients, whose bone marrows were generally hypercellular, suffered from neutropenia. After developing AML, 8 (47.06%) patients developed abnormal karyotypes. High expression of immature myeloid antigens, including CD33 ［(49.83±24.50)%］, CD13 ［(36.38±33.84)%］, monocytic antigen CD14 ［(38.50±24.60)%］, and stem cell marker CD34 ［(34.67±30.59)%］, were found on bone marrow mononuclear cells from MDS-AML patients after leukemic transformation. In some cases, lymphoid antigens, such as CD5, CD7, CD9, and CD19, coexisted with myeloid antigens. A low complete remission rate (31.25%) and a short survival time, with median survival of 6 (1-28) months, were found in patients with MDS-AML treated by induction chemotherapy.Conclusions MDS has a high risk of developing into AML, either gradually or rapidly. Patients with MDS-AML have specific biological characteristics and a worse prognosis.     

Treg和淋巴细胞亚群在急性髓系白血病中的意义

目的：研究 CD4+CD25+CD127 low/-调节性 T 细胞(Treg)和淋巴细胞亚群在急性髓系白血病(AML)患者外周血中的变化、相互关系及临床意义。方法采用流式细胞仪对初治组和完全缓解( CR)组外周血Treg及淋巴细胞亚群水平进行检测,并与正常对照组进行对比。结果初治组和CR组AML患者外周血中Treg水平均高于正常对照组( P<0．05),初治组高于CR组(P<0．05)。初治组和CR组AML患者外周血的NK( CD3-CD16+CD56+)细胞占淋巴细胞的比例均低于正常对照组(P<0．05),初治组低于CR组(P<0．05)。初治组 CD3+ T 细胞、CD4+ T 细胞含量和 CD4+/CD8+比值均低于正常对照组( P<0．05),但初治组CD8+T细胞含量却明显高于正常对照组( P<0．05);CR组CD3+T细胞、CD4+T细胞、CD8+T细胞含量及CD4+/CD8+比值接近正常对照组,与初治组比较差异有统计学意义(P <0．05)。结论 AML患者外周血中Treg及CD8+T细胞比例明显升高, NK 细胞、CD3+ T 细胞、CD4+ T 细胞含量和CD4+/CD8+比值降低,表明AML患者免疫功能处于抑制状态。 Treg控制CD8+T细胞免疫应答,同时抑制NK细胞的天然免疫反应,在CD4+T细胞与CD8+T细胞平衡的失调中起主要作用,与 AML 疾病发生发展密切相关。通过下调Treg的数量或去除其抑制功能,优化AML患者的免疫治疗。     

普罗布考对oxLDL诱导的人单核细胞株THP-1粘附功能的影响

目的 :探讨普罗布考对氧化修饰低密度脂蛋白 (ox L DL )诱导的人单核细胞株 THP- 1粘附功能的影响。 方法 :分别应用流式细胞仪和β- N -乙酰氨基己糖苷酶比色法 ,观察不同浓度普罗布考对 ox L DL诱导的 THP- 1对人脐静脉内皮细胞(HUVEC)的粘附及粘附分子 CD11b和 CD5 4表达水平的影响。 结果 :普罗布考呈浓度依赖方式抑制 ox L DL诱导的 THP- 1对 HU VEC的粘附 ,并下调粘附分子 CD11b的表达 (P<0 .0 1) ,但对 CD5 4表达水平无明显影响。结论 :普罗布考除具有调脂作用外 ,尚可抑制循环血单核 -巨噬细胞与内皮细胞粘附聚集 ,具有抗炎作用     

伴异柠檬酸脱氢酶1基因突变急性髓系白血病的临床特征及预后

目的 评估异柠檬酸脱氢酶1(IDH1)基因突变在急性髓系白血病(AML)患者中的发生率、临床特征及预后意义。方法 选取2015年1月至2018年9月于我院初诊的220例AML患者,应用PCR方法扩增IDH1基因的4号外显子,通过基因测序检测IDHl基因突变情况,分析IDH1突变患者的临床特征及预后意义。结果 220例AML患者中检出IDH1基因突变者9例,突变率为4.09％,均为R132H突变。突变组患者中位年龄为50岁,未突变患者中位年龄为43岁,两组间比较有差异,P＜0.05;突变组患者初诊血小板计数为68(48～175)×10⁹/L,未突变组患者初诊血小板计数为43(10～253)×10⁹/L,两组间比较有差异,P＜0.05。IDH1基因突变均发生在AML-M5和AML-M4中,未见其他亚型。正常核型组IDH1基因突变率6.48%(7/108),高于异常核型组IDH1基因突变率1.43%(1/70),无统计学差异。IDH1基因突变与NPM1基因突变有相关性,P＜0.05 ,与FLT3-ITD基因突变无明显相关性。IDH1基因突变患者免疫表型易出现CD34^-、CD33⁺、CD64⁺( P均<0.05)。IDH1突变组化疗完全缓解率为50%(4/8),低于非突变组化疗完全缓解率80.92%(140/173), P＜0.05 。所有随访患者中,IDH1突变组2年总生存率为25%(1/4),低于非突变组2年总生存率67.32%(103/153), P＜0.05;正常核型患者中,IDH1突变组2年总生存率为28.57%(2/7),低于非突变组2年总生存率65.91%(58/88),P＜0.05 ;不伴有NPM1突变的患者中,IDH1突变组2年总生存率为0%,明显低于非突变组2年总生存率67.20%(84/125),P＜0.05;伴有NPM1突变的患者中,IDH1突变组2年总生存率为40%(2/5),非突变组2年总生存率为67.86%(19/28),差异无统计学意义。结论 IDH1基因突变患者年龄较大,血小板计数较高。IDH1基因突变易发生于正常核型患者,易见于AML-M5和AML-M4。IDH1基因突变与NPM1基因突变有相关性。IDH1基因突变对AML患者的预后有不良影响,是预后不良的分子标志,伴有NPM1突变时,对患者的预后无明显影响。