慢性粒细胞白血病患者染色体检查及预后意义探讨

目的探讨慢性粒细胞白血病(CML)患者染色体变化的有关特点及预后意义.方法染色体制备采用骨髓细胞短期培养法,应用G、R显带技术对85例CML患者的骨髓细胞进行遗传学分析.结果 85例CML患者中,78例检出典型Ph染色体,占91.76%,3例为变异Ph易位,占3.53%,4例Ph染色体阴性,占4.71%,10例核型呈嵌合状态,13例出现附加染色体异常,主要为 8,i(7), Ph, 22, 12等,其中9例为加速和急变期患者,占64.29%.结论 CML是一种高度异质性疾病,非随机的附加染色体异常与患者临床分期高度相关.CML患者进行染色体分析对于疾病的诊断及鉴别、指导临床治疗、判断预后具有重要意义.     

慢性粒细胞白血病罕见染色体易位二例

慢性粒细胞白血病罕见染色体易位二例李湧，叶红，黄培山，韦叶育，杜锦妮，王慧芳，张九莲例１女，５０岁，壮族，农民，孕４产３。晚孕引产时查血象：ＷＢＣ为４１．６×１０９／Ｌ。患者１月余常有低热，肝脾不大，首次骨髓象诊断为反应性增生。第２次骨髓象：增生明显...     

26例慢性粒细胞白血病的细胞遗传学染色体核型分析

目的探讨本地区慢性粒细胞白血病（慢粒）中Ph染色体的有关特点及意义。方法染色体制备采用骨髓穿刺细胞短期方法，应用G显带技术对本地26例慢性粒细胞患者细胞遗传学进行分析。结果24例（9203％）为Ph（＋）、2例（7.6％）为Ph（-），2例慢粒急变患者有额补的染色体畸变异常（8q＋，10q＋各1例）。结论染色体检查核型分析不但有助于慢粒的诊断和鉴别诊断，而且有助于预测急变、判断疗效和进行细胞遗传学分型。     

慢性粒细胞白血病细胞遗传学改变临床分析

目的探讨慢性粒性细胞白血病（CML）的细胞遗传学特点及意义。方法采用24h短期培养法制备骨髓染色体,应用G显带技术进行染色体核型分析。结果194例CML患者中,166例ph＋（占85．57％）,28例ph-（占14．43％）,其中158例具有典型易位,8例复杂变异易位,98例出现其他附加染色体异常,主要为：-22,＋8、-21、-11、-10、-14和-20等。结论CML患者进行细胞学研究对疾病的诊断、治疗和判断预后具有重要意义。     

180例慢性粒细胞白血病骨髓染色体畸变及意义

目的　研究骨髓染色体畸变与慢性粒细胞白血病 (慢粒 )不同病期的相关性及其临床意义。方法　采取新鲜骨髓 ,进行短期培养 (48小时或 12小时预加秋水仙素培养 )制备染色体标本 ,分析 180例慢粒患者慢性期、加速期、急变期骨髓染色体的变异情况。结果　 180例慢粒患者 ,其中 16 4例Ph染色体阳性 (Ph ) ,占 91 1% ;16例Ph染色体阴性(Ph - ) ,占 8 9%。慢性期 133例Ph ,占总数的 73 9% ;加速期 9例Ph ,占总数 5 0 % ;急变期 2 2例Ph ,占总数12 2 %。 16 4例Ph 慢粒患者中 2 5例 (15 2 % )伴有额外染色体异常 ,其中慢性期占 4 2 7%、加速期占 2 4 %、急变期占8 5 3%。结果表明随着病情的进展 ,Ph 阳性率明显增高 ,其它染色体异常率也明显增高。结论　骨髓染色体畸变与慢粒白血病的病程进展、疾病预后有着十分重要的相关性 ,随着病情的演变 ,骨髓染色体畸变趋于复杂化。进行染色体分析对临床诊断及治疗慢粒具有十分重要的指导意义。     

七例儿童慢性粒细胞白血病临床及染色体异常

七例儿童慢性粒细胞白血病临床及染色体异常顾小锋，吴玥，吴长根，沈伟敏儿童慢性粒细胞白血病（ＣＭＬ）较少见，仅占儿童白血病的３％～５％［１］。国内有关儿童ＣＭＬ的资料报道并不多见，我们报道７例儿童ＣＭＬ的临床及骨髓细胞染色体检查结果。１材料与方法７例患...     

荧光原位杂交检测慢性粒细胞白血病的染色体畸变

目的 检测费城染色体（Ｐｈｉｌａｄｅｌｐｈｉａ ｃｈｒｏｍｏｓｏｍｅ，Ｐｈ染色体）阴性，变异型Ｐｈ染色体及伴有其它染色体异常的慢性粒细胞白血病（ｃｈｒｏｎｉｃ ｍｙｅｌｏｉｄ ｌｅｕｋｅｍｉａ，ＣＭＬ）的ｂｃｒ／ａｂｌ融合基因。方法 双色荧光原位杂交技术，检测伴有８种不同的骨髓细胞染色体畸变ＣＭＬ患者的ｂｃｌ／ａｂｌ融合基因。结果 ３例变异型Ｐｈ和７例有标准型Ｐｈ的ＣＭＬ患者均为ｂｃｒ／ａｂｌ融合     

600例慢性粒细胞白血病的细胞遗传学分析

目的为了探讨我国慢性粒细胞白血病（慢粒）中Ｐｈ染色体的有关特点及其意义。方法染色体制备采用骨髓细胞直接法和／或短期培养法，应用Ｒ显带技术对６００例慢粒患者的细胞遗传学资料进行了回顾性分析。结果３０例（５％）为Ｐｈ（－），５７０例（９５％）为Ｐｈ（＋）；５３５例（９３．８％）有典型Ｐｈ易位，３４例（５．９％）有变异易位，包括简单变异易位和复杂变异易位各１３例（２．２％），隐匿Ｐｈ易位８例（１．４％）；５２６例（９２．２％）的Ｐｈ（＋）细胞为１００％，４４例（７．７％）经异基因骨髓移植、干扰素和脉冲羟基脲等治疗后有部分或全部细胞转为正常核型；５０．６％的慢粒急变患者有额外的染色体异常，其中以＋８、２Ｐｈ和ｉ（１７ｑ）最多见。结论染色体检查不但有助于慢粒的诊断和鉴别诊断，而且有助于预测急变、判断疗效和进行细胞遗传学分型     

135例慢性粒细胞性白血病细胞遗传学分析

目的探讨慢性粒细胞性白血病(CML)的细胞遗传学特点及意义.方法采用24h短期培养法制备骨髓染色体.G显带技术进行染色体核型分析并照相.结果本研究135例患者中有108例Ph( )(占80%),27例ph(-)(占20%);108例Ph( )病例中,具有典型易位即t(9;22)(q34.1;q11.21)100例,变异易位和涉及其他染色体异常的有8例.47,XX, 8,t(9;22)/46,XY 1例;49,XY 8、 9、 20,双Ph( )1例;46,XX,t(9;22)-17 i(17q)1例(慢粒急变).2例单纯变异Ph易位t(17;22)和t(21;22),3例复杂变异易位为46,XX,t(5;9;22)和46,XX,t(7;9;22),46,XX,t(9;12;22).结论白血病进行细胞遗传学研究对疾病的诊断和预后判断具有重要的价值.     

急性白血病染色体核型与临床关系

近年来大量研究表明染色体核型分析对急性白血病（ＡＬ）的分型、预后判断及指导治疗有重要意义，为此我们对１９９０年１月－１９９６年８月１２０例小儿急性白血病患儿应用高分辩同步化染色体制备法和骨髓短期培养法进行了细胞遗传学研究，现分析如下。资料与方法１２０...     

Marked karyotype abnormalities in two cases of acute myelogenous leukemia

Two patients with acute myelogenous leukemia with severe chromosome abnormalities are described. The cytogenetic analysis shows the following karyotype: patient No. 1: 41,XY, ?1,?2,?4,?5,?13,?15,?17,?17,?18,?22,+5 markers; patient No. 2: 46,XY,?2,?5,?7,?13,+16,?21,?21,+5 markers. In each patient one set of double minute chromosomes was observed.     

The clinical significance of karyotype in acute myelogenous leukemia

To evaluate further the prognostic significance of karyotype at diagnosis of acute myelogenous leukemia (AML), we have made a follow-up study of 711 patients who were diagnosed between January 1, 1980, and March 31, 1982, and who were originally reported by the Fourth International Workshop on Chromosomes in Leukemia (4IWCL). Three different chromosomal classifications were evaluated, including presence of normal and abnormal metaphases (NN-AN-AA classification), a modification of the Chicago classification, and a complexity classification. All three chromosomal classifications were shown to correlate significantly with outcome in patients with de novo AML. Furthermore, the NN-AN-AA classification and the complexity classification had independent prognostic significance when age, sex, and FAB morphology were also considered in multivariate analyses of survival. These data provide further evidence that karyotype is an important factor in predicting the outcome of patients with AML.     

Cytogenetic peculiarities in chronic myelogenous leukemia

Cytogenetic investigations were performed in 185 patients with chronic myelogenous leukemia (CML) at all stages of the disease; 166 patients were Ph positive-159 (95.8%) of these showing the standard Ph translocation, and 7 (4.2%) variant translocations-17 patients were Ph negative. In 2 patients the cytogenetic analysis was unsuccessful. Additional aberrations were found in 40 (24.1%) of the Ph-positive patients. Nine (52.9%) of the Ph-negative patients showed chromosome anomalies. Besides the well known nonrandom abnormalities (-7, +8, i(17q), +19, +Ph) we found a high frequency of clones with rare or not yet described structural rearrangements--in 14 cases (34.2%) of the Ph-positive patients and in 2 cases (20%) of the Ph-negative patients with other chromosome abnormalities. The clinical significance of these findings is discussed.     

Studies of complex Ph translocations in cases with chronic myelogenous leukemia and one with acute lymphoblastic leukemia

The BCR/ABL gene fusion, the hallmark of chronic myelogenous leukemia (CML) is generated in 2-10% of patients by a variant Ph translocation involving 9q34, 22q11.2, and one or more additional genomic regions. The objective of this study was the characterization by conventional and molecular cytogenetics of complex variant Ph translocations present at diagnosis. FISH studies were performed in 7 cases using the LSI BCR/ABL ES probe allowing the detection of the fusion BCR/ABL gene on the Ph chromosome in all of them and 9q34 deletions in 2 cases. Three cryptic complex rearrangements were detected by FISH studies. The third and the fourth chromosome regions involved in the 8 complex variant translocations were: 1q21, 1p36, 5q31, 11q13, 12q13, 12p13, and 20q12. In conclusion, FISH studies have been useful in the detection of the BCR/ABL rearrangements and 9q34 deletions, and to identify complex rearrangements that differ from the ones previously established by conventional cytogenetics.