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1.
  目的 探讨急性髓系白血病(AML)细胞遗传学分布特征及其与诱导治疗反应的相关性。方法 对初诊为AML的395例患者的染色体核型进行分析,按照美国国立综合癌症网络(NCCN)白血病指南分为预后良好组、预后中等组和预后不良组。分析各组核型发生比及其1个疗程诱导治疗后的完全缓解(CR)率。结果 预后良好、中等及不良核型分别占50.56 %(180/356)、39.89 %(142/356)、9.55 %(34/356)。预后良好核型t(15;17) 113例中,接受并完成1个疗程诱导治疗的101例患者均达CR。单纯t(8;21)组与合并其他染色体异常的t(8;21)组CR率比较差异有统计学意义[92.00 %(23/25)比 50.00 %(11/22)](χ2=10.317,P=0.001)。正常核型及-Y异常两组核型CR率比较差异无统计学意义[61.90 %(39/63) 比 58.82 %(10/17)](χ2=0.054,P=0.817)。复杂核型中以单体核型最多见,经治疗的10例单体核型患者9例未达缓解。结论 初诊AML患者细胞遗传学分布特点与国际其他中心报道略有差异。AML患者细胞遗传学特征不仅与长期生存相关,而且与诱导治疗后CR率密切相关。  相似文献   

2.
目的 探讨骨髓增生异常综合征(MDS)各亚型中的染色体核型分布特点及其与预后的关系。方法 回顾分析151例原发性MDS患者的染色体核型,比较各亚型中的染色体核型分布特点、国际预后积分系统(IPSS)评分、白血病转化率及死亡率等,并比较其在汉族与维吾尔族MDS患者中有无民族差异性。结果 所有患者核型异常检出率为55.0 %(83/151),其中简单异常占53.0 %(44/83),复杂异常占47.0 %(39/83)。伴多系病态造血的难治性血细胞减少症(RCMD)、原始细胞过多的难治性贫血(RAEB)-Ⅰ、RAEB-Ⅱ亚型中复杂异常的检出率明显高于难治性贫血(RA)、环形铁粒幼细胞增多的RA(RARS)亚型。核型异常涉及各条染色体,发生频率较高的染色体畸变依次为-5/5q-、-7/7q-、+8、-20/20q-、-X/-Y、i(17q)、9p-/9q-、+21等。IPSS评分在各亚型中差异有统计学意义(χ2=117.802,P<0.01);高危组的核型异常检出率明显高于低危组和中危组(均P<0.05)。随访151例患者白血病转化率和死亡率分别为25.2 %(38/151)和43.7 %(66/151),核型异常者白血病转化率和死亡率明显高于核型正常者(均P<0.05)。核型异常者白血病转化中位时间和生存中位时间均短于核型正常者。汉族与维吾尔族MDS患者各亚型分布、核型异常特点及白血病转化率、死亡率等方面差异均无统计学意义(均P>0.05)。结论 染色体核型异常在MDS不同亚型中存在差异且与预后密切相关,是影响MDS患者病情进展及预后的重要指标,对MDS的正确诊断、病情监测及预后评估有重要意义。  相似文献   

3.
 目的 分析伴t(3;3)急性髓性白血病(AML)的临床和实验室特征。方法 骨髓细胞24 h短期培养后按常规方法制备染色体,用热处理吉姆萨反带技术进行细胞遗传学分析。结果 1例M2患者其核型分析结果为t(3;3)异常,确诊为AML-M2a。应用标准诱导化疗后患者未获完全缓解。结论 t(3;3)是一种少见的核型异常,伴t(3;3)异常的急性髓系白血病治疗反应差,预后不良。  相似文献   

4.
目的:探讨伴有4号染色体三体异常的t(8;21)急性髓系白血病(AML)c-kit基因突变的发生率及患者预后。方法回顾性分析2005年2月至2013年1月145例初治t(8;21)AML患者的实验室及临床资料。所有骨髓样本均采用R显带技术进行核型分析。采用PCR方法检测c-kit基因8号、17号外显子突变情况,并分析患者的临床预后。结果145例t(8;21)AML患者中,12例(8.3%)伴有4号染色体三体异常,其c-kit基因突变发生率为91.7%(11/12),明显高于其他患者[26.3%(35/133)](P<0.01)。生存分析显示,伴有4号染色体三体异常的t(8;21)AML患者的3年总体生存(OS)率及无病生存(DFS)率(15%、0)均低于其他t(8;21)AML患者(56%、51%)(P<0.01)。同时伴有4号染色体三体及c-kit基因突变的t(8;21) AML患者的OS率及DFS率均较不伴有或不同时伴有4号染色体三体及c-kit基因突变的患者低(均P<0.05)。结论伴有4号染色体三体异常的t(8;21)AML患者c-kit基因突变发生率高,且预后不佳。4号染色体三体异常或联合c-kit基因突变是影响t(8;21)AML患者生存的主要因素。  相似文献   

5.
目的:探讨11例伴t(16;21)(p11;q22)染色体易位的急性髓系白血病(acute myeloid leukemia,AML)患者的临床和实验室特点。方法:回顾性分析2007年07月至2022年03月我院收治的11例t((16;21)(p11;q22)染色体易位的AML患者临床及实验室特征并复习相关文献。结果:11例t(16;21)(p11;q22)染色体易位的白血病均为AML,FAB分型:M2型4例,M4型1例,M5型3例,AML(非M3)型3例;其中男5例,女6例。染色体R显带分析11例均可见到t(16;21)(p11;q22)染色体易位,其中9例伴有附加染色体异常。融合基因TLS/FUS-ERG检测了9例均为阳性。免疫表型除表达髓系CD34、CD117、CD33、CD13、CD38外,均表达CD56。化疗1个周期后完全缓解7例。结论:t(16;21)(p11;q22)染色体易位是一种少见的重现性染色体异常,该易位产生TLS/FUS-ERG融合基因,免疫学检测多伴CD56阳性,以AML中M2/M5型多见,化疗1个周期大部分可完全缓解,但短期内易复发,预后不良。  相似文献   

6.
目的:对急性淋巴细胞白血病(ALL)急性髓系白血病(AML1)基因重排与混合谱系白血病(MLL)基因丢失同时出现进行探讨。方法:在常规细胞遗传学(CC)分析基础上运用荧光原位杂交技术(FISH),采用多种位点特异性DNA探针(染色体全染、特殊位点和双色易位融合探针),对63例ALL患者(8例成人,55例儿童)进行分析。结果:63例ALL患者中有4例(6.3%)出现MLL基因重排,其中3例出现MLL基因丢失,1例出现MLL基因的移位即t(4;11),3例出现了MLL基因丢失的患者同时合并有AML1基因重排,2例为t(12;21)易位而形成的TEL/AML1融合基因,1例为AML1基因复制引起的环形21号染色体,即r(21)。55例儿童ALL中有15例(27.3%)出现AML1基因重排,即由t(12;21)易位而形成的TEL/AML1融合基因,TEL/AML1阳性患者免疫分型均为B细胞型,8例成人均无t(12;21)。结论:儿童ALL常合并有t(12;21),TEL/AML1融合基因的出现是预后良好的指标,而MLL基因重排的患者具有对常规化疗不敏感及预后不良的特点,两者同时出现说明白血病染色体重排、病理过程及影响预后因素的复杂性。  相似文献   

7.
 目的 评价染色体核型在急性髓细胞性白血病(AML)预后评估中的意义。方法 对形态学及免疫分型诊断为AML的病例,取骨髓细胞行吉姆萨显带核型检测,进一步诊断、系统化疗,并回顾性分析核型与疗效的关系。结果 62例患者中,36例(58.06 %)患者出现核型异常,具有t(8;21)、t(15;17)或del(16)的患者的总体完全缓解率(86.96 %)显著高于其他异常核型 (46.15 %)和正常核型者(65.30 %)。结论 骨髓细胞核型可作为AML预后评估的指标,同时有助于AML的疗效判断及指导治疗。  相似文献   

8.
 目的 探讨急性白血病(AL)的细胞遗传学改变,了解染色体核型异常与AL FAB分型的关系及其对预后因素的影响。方法 129例AL患者于治疗前抽取骨髓标本,采用短期细胞培养法制备染色体标本,应用吉姆萨显带技术进行染色体核型分析。结果 进行染色体检查的129例AL患者中,21例无分裂象,在108例可供染色体核型分析的患者中,染色体核型异常65例(60.2 %);在急性淋巴细胞白血病(ALL)、急性髓细胞白血病(AML)和急性混合细胞白血病(AMLL)3种类型的白血病患者中,染色体核型异常分别为54.2 %(13/24)、63.2 %(48/76)和50.0 %(4/8);在染色体核型异常的65例患者中,超二倍体9例(13.8 %),亚二倍体12例(18.5 %),假二倍体2例(3.1 %),正常二倍体42例(64.6 %)。与FAB分型相关的特异性染色体重排35例(AML 26例、ALL 8例、AMLL 1例),占53.8 %,而在AML、ALL和AMLL染色体核型异常的患者中,与FAB分型相关的特异性染色体重排分别为54.2 %(26/48)、61.5 %(8/13)和25.0 %(1/4)。结论 60 %的AL存在克隆性染色体异常,一些特异性染色体异常改变是AL的细胞遗传学特征,与AL的FAB分型有明显相关性,不仅是诊断AL的重要依据,也是AL化疗和造血干细胞移植治疗后疗效观察、微小残留病(MRD)监测及判断预后和早期预测复发的重要指标。  相似文献   

9.
 目的 观察急性白血病(AL)患者血清乳酸脱氢酶(LDH)的变化,探讨其对AL疗效和预后判断的临床意义。方法 采用全自动生化分析仪检测156例AL患者[包括初治组63例、完全缓解(CR)组46例、复发组47例]的LDH值,常规反带方法分析AL染色体核型,并根据核型分成预后好、预后中等及预后差3组,分析LDH值与上述分组、患者白细胞数及白血病亚型的相关性。结果 初治组和复发组的AL患者血清LDH值[其中位数(P50)分别为399和265 U/L]明显高于CR组(P50 153 U/L)(P<0.05)。LDH的增高与外周血白细胞数(rs=0.604)及骨髓中白血病细胞比例(rs=0.538)密切相关(均P<0.01)。LDH与不同白血病亚型有关(L2、M4明显增高)(P<0.01)。难治复发的AL患者初治时LDH值(P50 538 U/L)高于非难治复发组(P50 294 U/L)。具有不良预后染色体核型的AL患者初治时LDH(P50 778 U/L)明显高于预后良好组(P50 306 U/L)和预后中等组(P50 405 U/L)(P<0.01)。结论 LDH在AL发病时明显升高,其升高程度与病期、亚型及恶性度有相关性,AL缓解期LDH可下降,LDH可作为AL诊治过程中判断病情、评估预后的参数。  相似文献   

10.
目的探讨以高三尖杉酯碱(HHT)为主的化疗方案治疗急性髓系白血病(AML)的缓解率,评价AML不同染色体核型、基因突变对总生存(OS)率、无事件生存(EFS)率的影响。方法将80例初治AML患者用随机信封法分为HAA、HDA、DA、IA方案治疗组,比较各组诱导完全缓解(CR)率,并将AML患者分为染色体核型“好、中、差”三组,分别比较OS、EFS。结合患者是否表达预后较差的基因突变,利用染色体与基因型两者总体评价OS、EFS。结果用含有HHT方案治疗初治AML46例,总CR率78.3%(36/46),高于DA方案组总CR率66.7%(10/15)及IA方案组的63.2%(12/19),三种方案组CR率差异无统计学意义(P〉0.05)。不同染色体核型对于生存具有较大影响,染色体核型“差”者OS、EFS较染色体核型“好”或“中”者下降程度显著。结合染色体和基因型分组对于显示预后总体OS、EFS的下降趋势更明显。结论含HHT的治疗方案CR率与传统DA、IA方案相似,提示高三尖杉酯碱治疗的有效性。不同染色体及基因突变对于AML预后具有较大影响。  相似文献   

11.
A complex aberrant karyotype consisting of multiple unrelated cytogenetic abnormalities is associated with poor prognosis in patients with acute myeloid leukemia (AML). The European Leukemia Net classification and the UK Medical Research Council recommendation provide prognostic categories that differ in the definition of unbalanced aberrations as well as the number of single aberrations. The aim of this study on 3526 AML patients was to redefine and validate a cutoff for karyotype complexity in AML with regard to adverse prognosis. Our study demonstrated that (1) patients with a pure hyperdiploid karyotype have an adverse risk irrespective of the number of chromosomal gains, (2) patients with translocation t(9;11)(p21∼22;q23) have an intermediate risk independent of the number of additional aberrations, (3) patients with ⩾4 abnormalities have an adverse risk per se and (4) patients with three aberrations in the absence of abnormalities of strong influence (hyperdiploid karyotype, t(9;11)(p21∼22;q23), CBF-AML, unique adverse-risk aberrations) have borderline intermediate/adverse risk with a reduced overall survival compared with patients with a normal karyotype.  相似文献   

12.
Medeiros BC  Othus M  Fang M  Appelbaum FR  Estey EH 《Cancer》2012,118(9):2420-2423

BACKGROUND:

Karyotype allows for stratification of outcomes in acute myeloid leukemia (AML) patients. Previous data suggested that the presence of residual normal cells improved the prognosis in patients with monosomy 7. The Southwest Oncology Group (SWOG) reported the impact of residual normal metaphases in AML patients with monosomal karyotype (MK) and found a similar relationship. We determined the influence of residual normal metaphases in patients with core binding factor (CBF) AML.

METHODS:

The presence and total number of normal and abnormal metaphases were tallied for patients with CBF AML treated in 10 consecutive SWOG trials and used as a variable to determine the effect on complete remission, refractory disease, and overall survival (OS) rates.

RESULTS:

Among 113 CBF AML patients, median age of diagnosis was 45 years (range, 18‐77 years), and median OS was 4 years (CI—2 years—not reached). Patients with inv(16) and no normal metaphases had improved OS compared with those with 1+ normal metaphases (P = .00005), whereas no difference was noted for patients with t(8;21). Multivariate analysis demonstrated that having cells with a normal karyotype had a negative impact on survival (HR, 2.11; 95% CI, 1.09‐4.08; P = .026). This shorter survival was a consequence of a higher rate of refractory disease in older patients (OR, 1.03; 95% CI, 0.9998‐1.06; P = .05) and in those with normal metaphases (HR, 1.26 95% CI, 1.04‐1.51; P = .02).

CONCLUSIONS:

In patients with CBF AML, the presence of cells with normal metaphases and increasing age negatively affect the prognosis, especially in patients with inv(16). Cancer 2012;. © 2011 American Cancer Society.  相似文献   

13.
Point mutations of the N-ras proto-oncogene have been frequently detected in samples of acute myelogenous leukemia (AML). In general the N-ras point mutation has been found in approximately 25% of samples, with some studies detecting the mutation in as many of 60% of samples. In this report we review the current literature regarding N-ras mutations in AML with emphasis on the updated experience of the Southwest Oncology Group (SWOG). The SWOG study examined 55 adult AML patients prospectively enrolled in a treatment protocol and found N-ras point mutations in 8 of 55 patients (15%). These mutations were usually in codon 12, 13 or 61, but one patient had mutations in both codons 13 and 61, and another had an unusual point mutation in N-ras codon 60. The presence of the N-ras mutation was not associated with pre-treatment clinical variables, response to induction therapy, or survival, except for a higher percentage of FAB M4 subtypes among mutation-positive patients. In this paper we compare the SWOG experience to the aggregate of literature regarding N-ras mutations in AML. In general while the N-ras mutation is common in AML, there is no clear evidence that it is sufficient or necessary for leukemic transformation. The presence of the N-ras mutation in AML does not seem to identify a unique clinical subset of AML patients.  相似文献   

14.
目的 分析AML1/ETO阳性急性髓系白血病(AML)患者的分子生物学特征及多因素对其预后的影响.方法 回顾分析63例AML1/ETO阳性AML患者的细胞形态学、免疫分型、细胞遗传学、分子生物学特征、临床疗效、预后等资料,以同期收治的56例AML1/ETO阴性的AML患者作为对照.结果 63例AML1/ETO阳性的AML患者中,M2a占57.12%(36例),M2b占33.33%(21例).初诊时骨髓原始细胞比例为0.46±0.16.CD34、CD13、CD33、CD19、CD7、CD56阳性率分别为67.21%、52.46% 、40.98%、63.93%、4.92%、50.82%.伴t(8;21)占82.54%,附加染色体占4.76%.3例伴EV11融合基因表达,1例伴MLL/AT9融合基因表达.总缓解率、复发率、3年及5年预计总体生存(OS)率分别为71.43%、51.11%、(43.01 ±5.31)%、(32.79±3.81)%,与对照组比较差异均无统计学意义(均P> 0.05).髓外浸润、是否表达CD56、有无附加染色体对OS率有影响(P<0.05).结论 AML1/ETO阳性的AML有其独特的特点,疗效和预后受多因素影响,不能单独依靠AML1/ETO融合基因来评估其疗效及预后.  相似文献   

15.
Chromosome studies, using bone marrow samples of 26 pretreated children (below 15 years of age) with Acute Lymphoblastic Leukemia were carried out to explore the potentialities of applying chromosomal findings as a prognostic indicator in these patients. Abnormal karyotype was identified in 15 patients (57.6 per cent). The chromosomes frequently involved in non-random numerical abnormalities were Nos. 8, 18 and 21. Structural chromosome changes observed consisted of deletion 6q- and translocation t (4;11). After karyotype analysis, patients were grouped into subsets on the basis of the karyotype pattern observed. They were followed up to evaluate their prognosis and survival period. Patients showing hyperdiploid clone with greater than 51 chromosomes had the best prognosis. Patients with normal karyotype and patients with deletion of the long arm of chromosome 6 showed intermediate prognosis whereas patients showing t (4;11), trisomy 8, trisomy 18, trisomy 21, and hypodiploid karyotype were associated with worst prognosis. Thus, karyotype analysis before treatment helps to classify ALL patients as poor, intermediate and good prognosis groups and on this basis therapy can be designed accordingly.  相似文献   

16.
In 1980, a consensus chemotherapy intergroup study for advanced malignant mesothelioma was initiated based on a collaborative agreement among the Eastern Cooperative Oncology Group (ECOG), the Southwest Oncology Group (SWOG), and the Southeastern Cancer Study Group (SECSG). The purpose of the study was to evaluate cyclophosphamide (500 mg/m2 day 1), imidazole carboxamide (250 mg/m2 days 1 through 5), and doxorubicin (Adriamycin; Adria Laboratories, Columbus, OH) (50 mg/m2 day 1) v cyclophosphamide (500 mg/m2) and doxorubicin (50 mg/m2) in a randomized prospective clinical trial involving 76 fully evaluable patients with advanced stages II to IV malignant mesothelioma. A total of nine responses (12%) were documented, including three complete and six partial responses. There was no significant difference in response duration or survival between treatment arms. Leukopenia (greater than 2,000/microL) was observed in 46% of patients treated with the three-drug combination and 38% of patients receiving the two-drug combination. The variables of performance status 0-1 and the absence of prior chemotherapy/radiotherapy were significant with respect to favorable impact on survival. We conclude, based on the minimal benefit observed, that the combination of cyclophosphamide and doxorubicin with or without imidazole carboxamide does not warrant further investigation in patients with advanced-stage malignant mesothelioma.  相似文献   

17.
目的 探讨伴t(11;19) (q23;p13.1)恶性血液病的临床及实验室特征.方法 分析1例血液病患者资料,其骨髓细胞24 h培养后按常规方法制备染色体,用R显带技术进行细胞遗传学分析.结果 该例患者核型为t(11;19) (q23;p13.1),确诊为急性髓系白血病(AML)-M4c.应用MA方案化疗后患者未获完全缓解.结论 t(11;19)(q23;p13.1)是一类很独特的白血病亚型有关的易位,为少见的非随机染色体易位,其临床预后差.  相似文献   

18.

BACKGROUND:

Patients with newly diagnosed acute myeloid leukemia (AML) often have residual leukemia in the bone marrow 10 to 14 days after the start of induction therapy. Some cooperative groups administer a second cycle of similar induction therapy on Day 14 if there is residual leukemia. It is a common perception that the presence of residual leukemia at that point predicts a worse prognosis irrespective of the therapy received. The objective of this study was to determine whether patients who required a second cycle of induction (given on or about Day 14) to achieve complete remission (CR) had a worse prognosis than patients who achieved CR after only 1 cycle, because a worse prognosis may alter postremission therapy.

METHODS:

Patients who were enrolled on 6 consecutive studies for AML that were conducted by the Eastern Cooperative Oncology Group (ECOG) between 1983 to 1993 received induction therapy. If residual leukemia was present in the bone marrow on the Day 14 after the start of induction, then patients were to receive a second cycle of identical induction therapy. All patients who achieved CR after 1 or 2 cycles received the identical postremission therapy.

RESULTS:

In each of the 6 ECOG studies, the long‐term outcome was similar for patients who required 1 or 2 cycles of induction therapy to achieve CR, and their outcome was independent of other prognostic variables, such as age or karyotype.

CONCLUSIONS:

The presence of residual leukemia in bone marrow 10 to 14 days after induction therapy did not predict a worse prognosis if patients received second, similar cycle of induction therapy and achieved CR. Cancer 2010. © 2010 American Cancer Society.  相似文献   

19.
目的:对急性淋巴细胞白血病(ALL)急性髓系白血病(AML1)基因重排与混合谱系白血病(MLL)基因丢失同时出现进行探讨。方法:在常规细胞遗传学(CC)分析基础上运用荧光原位杂交技术(FISH),采用多种位点特异性DNA探针(染色体全染、特殊位点和双色易位融合探针),对63例ALL患者(8例成人,55例儿童)进行分析。结果:63例ALL患者中有4例(6.3%)出现MLL基因重排,其中3例出现MLL基因丢失,1例出现MLL基因的移位即t(4;11),3例出现了MLL基因丢失的患者同时合并有AML1基因重排,2例为t(12;21)易位而形成的TEL/AML1融合基因,1例为AML1基因复制引起的环形21号染色体,即r(21)。55例儿童ALL中有15例(27.3%)出现AML1基因重排,即由t(12;21)易位而形成的TEL/AML1融合基因,TEL/AML1阳性患者免疫分型均为B细胞型,8例成人均无t(12;21)。结论:儿童ALL常合并有t(12;21),TEL/AML1融合基因的出现是预后良好的指标,而MLL基因重排的患者具有对常规化疗不敏感及预后不良的特点,两者同时出现说明白血病染色体重排、病理过程及影响预后因素的复杂性。  相似文献   

20.
《Leukemia & lymphoma》2008,49(3):508-516
Chromosomal aberrations are important prognostic parameters in acute myeloid leukemia (AML). Indicators of poor prognosis include del(5q)/-5, del(7q)/-7, abnormal 3q or complex karyotype. In recent years, it has become clear that aberrations in 17p represent one of the indicators of poor prognosis in haematological malignancies. In AML, deletions in 17p have been shown to indicate a dismal prognosis; genetic aberrations in 9p have also been discussed as influencing long-term survival in AML. In this study, we correlated genetic abnormalities in chromosomes 9 and 17 in patients with de novo AML to in vitro cytotoxicity of conventional anti-leukemic drugs, and long-term overall survival. Blast cells were isolated from 387 patients diagnosed with AML. Chromosomal analysis was successful in 336 cases. All samples were tested for in vitro cytotoxicity against fludarabine, amsacrine, mitoxantrone, etoposide, daunorubicin and Ara-C after being cultured for 4 days, using an ATP assay. Among the 336 patients, five main groups were identified. Abnormal chromosome 17 (n = 22), abnormal 9p (n = 13), monosomy 7 or deletion 7q (n = 35), complex karyotype (n = 52) and normal karyotype (n = 132). Patients with abnormalities of chromosome 17 showed significantly greater resistance to all drugs tested and significantly shorter overall survival compared with patients with normal and complex karyotypes (p = 0.0001 and 0.041, respectively). All patients with abnormalities of chromosome 17 died within 11 months of diagnosis. A tendency towards shorter overall survival and greater drug resistance was also noted when comparing chromosome 17 abnormalities with del(7q)/-7, but the differences did not reach statistical significance. Patients with abnormal 9p showed significantly shorter overall survival but did not differ significantly as regards in vitro drug resistance compared with patients presenting with a normal karyotype. Chromosomal abnormalities affecting the p53 pathway have a significant impact on cytostatic drug resistance and survival in AML. Developing new drugs targeting the p53 pathway could be a way to improve treatment of AML.  相似文献   

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