35例成人急性白血病形态学、免疫学和细胞遗传学分型诊断

本文报告35例成人急性白血病（AL)形态学、免疫学和细胞遗传学(MIC)检查，结果表明血细胞形态学包括细胞化学符合MIC分型达91．43％(32例)，单克隆抗体(McAb)除M2、M4各一例显示M1、M2外，另一例ALL显示HLA。其余诊断全符合。染色体检查：核型或数目异常为71．43%，Ph染色体也可见于ALL、HLA及M2。9例M2中有5例发现t(8；21)，1例染色体正常。另一例M1也显示t(8；21)，M23例及Msb1例可见t(5；17)，另一例可见del(2)。     

HLA-DRB1基因多态性与急性淋巴细胞白血病和慢性髓性白血病易感性关联的研究

目的探讨急性淋巴细胞白血病（ALL）和慢性髓性白血病（CML）易感性与HLA-DRB1基因多态性之间的关联性,找出急性淋巴细胞白血病和慢性髓性白血病的易感基因。方法采用序列特异性引物聚合酶链反应（PCR-SSP）DNA分型技术对56例ALL患者、48例CML患者和105例健康对照进行了HLA-DRB1基因分型。结果ALL患者组与HLA-DR7基因关联,基因频率为24.1%,RR=2.56,χ     

急性髓性细胞白血病免疫分型特点及其与疗效、预后关系的研究

目的 分析急性髓性细胞白血病(AML)免疫分型特点及其与疗效、预后的关系.方法 收集本院收治的86例AML初诊患者的临床资料,统计所有患者的免疫分型结果 、治疗1个疗程后的效果及1年内复发情况,分析免疫分型结果 特征及其对治疗效果、复发情况的影响.结果 86例AML患者髓系抗原中表达阳性率前五位由高到低依次为:CD33...     

FAB分型、免疫分型和基因分型联合检测急性白血病

近几十年来 ,由于白血病发病不断增加及科技的发展 ,使白血病的诊断技术不断进步 ,单凭传统的光镜形态学诊断技术和不统一的诊断与分型 ,已远远不能适应临床需要。单克隆抗体 (ＭｃＡｂ)的广泛运用 ,使人们开始从造血细胞分化抗原表达的角度去研究急性白血病 (ＡＬ) ,再加上基因分型 ,使ＡＬ诊断率提高至 98%以上。1　材料与方法1 1　病例来源　 117例ＡＬ患者均为初治 ,男 70例 ,女 4 7例 ,年龄范围 13～ 76岁 ,中位年龄 32岁。 117例均按ＦＡＢ分型诊断标准确诊 ,其中急淋白血病(ＡＬＬ) 2 9例 ,急性髓系白血病 (ＡＭＬ) 83例 ,难分类ＡＬ…     

伴有多系发育异常的急性髓细胞白血病骨髓染色体分析

目的探讨伴有多系发育异常的急性髓细胞白血病(AML)的染色体特征及其临床疗效和预后判断价值。方法采用骨髓细胞短期培养法,应用G、R显带技术对28例伴多系发育异常的AML和179例不伴发育异常的AML进行染色体分析,统计染色体异常的患者1～4个疗程结束后治疗效果。结果伴有多系发育异常的AML患者染色体异常率为64.29%(18/28),主要的染色体异常为-5、del(5q)、-7、del(7q)、+8、+11、-Y、t(3;3)、t(6;9);无发育异常的AML患者染色体异常率为37.98%(68/179),23例有t(8;21)、t(15;17)、inv(16)等特征性染色体改变;染色体异常的患者经标准方案治疗后,伴有多系发育异常的AML患者缓解率(CR)低、缓解持续时间短,耐药发生率高。结论伴多系发育异常的AML有其独特的细胞遗传学特点,染色体异常的患者与不伴发育异常的AML相比显示预后不良。     

急性髓系白血病细胞遗传学的分型诊断意义

为探讨细胞遗传学在急性髓系白血病（ＡＭＬ）分型诊断中的意义，回顾性分析了１６７例原发性初诊ＡＭＬ患者的核型与ＡＭＬ亚型之间的关系。结果表明：６７．７％的患者有克隆性染色体异常，ｔ（８；２１）、ｔ（１５；１７）、ｉｎｖ（１６）／ｄｅｌ（１６）分别与Ｍ２ｂ、Ｍ３、Ｍ４Ｅｏ特异性相关，１１号染色体异常常见于Ｍ４、Ｍ５。细胞遗传学可作为ＡＭＬ亚型的分型诊断手段之一。     

急性白血病、慢性髓细胞白血病及骨髓增生异常综合征患者染色体分析

目的探讨染色体分析在急性白血病（AL）、慢性髓细胞白血病（CML）及骨髓增生异常综合征（MDS）诊断及预后判断中的价值。方法采用骨髓细胞短期培养法,应用G、R显带技术对238例AL、CML及MDS患者进行染色体分析。结果56.30%的患者有染色体异常,其中数目异常占6.30%,结构异常占39.08%,复杂异常占10.92%;各组患者中CML组异常检出率最高,占总病例的34.87%;AL组染色体畸变最为复杂,累及除3,4,5,10及X以外的所有染色体,11例患者出现了特异性染色体畸变,与患者预后相关;CML加速/急变期出现了附加染色体异常;核型异常的MDS患者均检出了8三体,7例为单纯8三体,2例RAEB-T患者均为复杂异常。结论染色体检查对于疾病诊断与鉴别、指导临床治疗、判断预后等具有重要意义。     

t(8;21)儿童急性髓细胞性白血病临床和生物学特征

目的了解儿童t(8;21)急性髓细胞白血病(acute myeloid leukemia, AML)的临床和生物学特征.方法对41例儿童t(8;21)AML作了回顾性分析,取同期诊治的19例t(8;21)阴性AML作为对照组.分析临床、形态学、染色体、免疫表型和分子生物学等资料.结果本组t(8;21)AML占同期连续的60例儿童急性AML的68.3%,其中典型易位29例、变异易位2例、单纯8q-各2例、t(8;21)为特征的近四倍体2例和隐匿易位6例.37例(80.4%)为M2型AML,大多有下述形态学改变白血病细胞有核凹陷、近核浅染区、胞浆嗜碱性、伴有成熟分化和核浆发育不平衡等;有CD13高表达抗原;绘逆转录-聚合酶链反应检测的23例均检出AML1/ETO融合基因转录本,包括正常核型的6例;t(8;21) AML与对照组相比,完全缓解率差异无显著性(82.4% vs 75%,P>0.05),但复发率的差异有显著性(10.7% vs 41.7%,P<0.05).结论 t(8;21) AML是儿童AML中最常见的类型,主要和M2型有关,具有独特的形态学、免疫学和临床特征.     

转录因子与急性髓性白血病分子生物学研究进展

转录因子(TF)是一类识别和结合特定DNA调节顺序的核蛋白,能刺激或抑制转录。与人类白血病有关的TF基因是目前研究的热门课题,本文对TF基序及髓性白血病TF特征等进行了综述。     

Structural rearrangement of the Y chromosome in a case of acute myeloid leukemia M2.

Involvement of the Y chromosome in numerical changes associated with acute nonlymphocytic leukemia is quite common, whereas acquired structural rearrangements of the Y chromosome are much rarer, there being only four such cases documented in the literature [1]. We identified a case of acute myeloid leukemia (AML M2) with rearrangements of chromosomes 1, 10, and Y; at remission, all analyzed metaphases were normal, confirming the acquired nature of the Y chromosome abnormality.     

急性白血病患者骨髓细胞形态和免疫表型同步检测的比较分析

目的 探讨骨髓细胞免疫表型在急性双表型白血病中的诊断价值以及与骨髓细胞形态学的比对研究.方法 利用流式细胞仪四色免疫荧光直接标记技术对230例急性白血病患者进行细胞免疫表型、骨髓细胞形态学分型检测及分析.采用流式细胞术四色免疫荧光直接标记技术与CD45/SSC设门分析技术检测13例双表型急性白血病患者,根据欧洲白血病免疫分类组(EGIL)积分标准进行免疫学分型.结果 230例急性白血病患者免疫分型诊断结果与骨髓细胞形态学和组织化学诊断具有高符合率,其中免疫分型诊断为急性双表型白血病的13例(5.7％).此外,急性双表型白血病患者高表达CD34胞膜抗原(84.6％),提示预后不良.结论 急性双表型白血病发病率较低,骨髓细胞免疫表型对诊断及鉴别双表型急性白血病极为特异,以髓系和B淋巴系抗原共表达为主.应用骨髓细胞形态学和流式细胞术联合检测急性双表型白血病可以提高诊断的准确性,有效地指导临床制定治疗方案和预后判断.     

Symposium: classification of leukemia. 1. The classification of acute leukemia

Two main forms of acute leukemia have been recognized by the French-American-British (FAB) group: myeloid (AML) and lymphoblastic (ALL). Some types of AML can be diagnosed on well prepared bone marrow films stained with May-Grünwald-Giemsa. Poorly differentiated types, myeloblastic (M1) and monoblastic (M5PD), need confirmation by positive cytochemical reactions (Sudan Black B, myeloperoxidase and non-specific esterase). There are 2 sub-types of promyelocytic leukemia: M3 typical, hypergranular and M3 variant, microgranular. The M3 variant has a more acute course, higher WBC and may require cytochemistry to demonstrate promyelocytic differentiation. Electron microscopic cytochemistry can also help in the classification of difficult AML cases; the 'platelet-peroxidase' reaction, for example, is essential for the diagnosis of megakaryoblastic leukemia, a disorder often presenting as 'acute' myelosclerosis. Three morphological types are seen in ALL: L1, predominantly in children, L2, more frequently in adults, and the relatively rare L3 or Burkitt type. Immunological and enzyme markers (ALL and la antigens, terminal transferase, etc.) help define the cell phenotype: (1) non-B, non-T ALL with 3 forms (common, null and pre-B), (2) T-ALL, related to but distinct from T-lymphoblastic lymphoma, and (3) B-ALL, usually with L3 morphology, There is growing evidence that the FAB morphological types correlate with prognosis in ALL independently of other factors. The immunologically defined types also correlate with prognosis but not as an independent variable.     

Prevalence of TEL/AML1 fusion gene in Brazilian pediatric patients with acute lymphoblastic leukemia

We studied 58 childhood B-lineage acute lymphoblastic leukemia (B-ALL) in Brazilian sample patients at the time of diagnosis to investigate the prevalence of the cryptic t(12;21)(p13;q22). All bone marrow specimens were G-band karyotyped, and commercial dual-color DNA probes were used to search for fusion signals in nuclei. The karyotype analysis showed hyperdiploidy as the most frequent abnormality. The frequency of patients with TEL/AML1 gene fusion was 19% (11 out of 58 cases). Six of the positive samples had normal karyotypes. Deletion of the wild-type TEL allele was observed in 27.3% of TEL/AML1 fusion-positive cases, but it was also identified in 4.2% of the negative cases. Three cases presented two fusion signals, indicating possible duplication of the der(21). The mean age of the patients with TEL/AML1 fusion was 4.8 years and the mean amount of peripheral leukocytes was 44,270 x 10(6)/L. The higher frequency of females with B-ALL (33/58 cases) observed in our sample was probably due to the selection mode of the study cases. The prevalence of TEL/AML1 fusion in Brazilian children in our study is similar to that found in other populations.     

Banded chromosome analysis in patients with treatment-associated acute nonlymphocytic leukemia

We have analyzed G-banded metaphase chromosomes from 20 patients with treatment-associated acute nonlymphocytic leukemia (t-ANLL). Nine patients were previously treated for hematologic malignancies and 11 for solid tumors. The interval from initial therapy to t-ANLL ranged from 35 to 182 mo (median 75.5 mo). Medial age at diagnosis of t-ANLL was 58.5 years. Clonal chromosome abnormalities were found in 19 patients (95%). Loss or partial deletion of the long arm of chromosomes #5 and/or #7 were most common, occurring in nine patients. These abnormalities were associated with hypodiploid complex karyotypes. Other nonrandom abnormalities recurring among karyotypes with abnormalities of chromosome #5 included loss of one #18, partial deletion of the long arm of chromosome #2, ring chromosomes, and a Philadelphia (Ph1) chromosome. We also identified a group of five patients whose only karyotypic abnormality was addition of whole chromosomes. The remaining five patients had other karyotypic abnormalities, the most common of which were structural rearrangements in a pseudodiploid clone. Combined data from our study and the three previously published large series of patients with t-ANLL studied with banding suggest a relationship between karyotype and intensity of prior therapy, with abnormalities of chromosomes #5 and #7 occurring more often in the intensively treated patients.     

Morphological and immunological classification and response to chemotherapy in adult patients with acute leukemias

Three hundred forty four adult patients with acute leukemia were classified according to the FAB classification, and revealed 109 patients were ALL and 235 were AML. Surface marker analysis were done in 52 cases with ALL and 51 with AML. Patients with ALL were treated with VP or LVP therapy and those with AML were treated with DC(M)P, BH-AC DMP, DCMP-85 or DBMP-85. L 1 was 56% of ALL patients and L 2 was 44%. Complete remission (CR) rate of L 1 was 78.8% and that of L 2 was 62.5%, however 5 year survival rate was less than 20% in both groups. c-ALL was 62% of ALL, T-ALL and N-ALL were 15% and 13% respectively. L + M ALL was 8% and B + T ALL was 2%. CR rate was almost same among each groups, however disease free survival (DFS) was better in T-ALL and worse in c-ALL. M 1 was 23.4% of AML, M 2, M 3, M 4, M 5 and M 6 were 42.6%, 15.7%, 11.9%, 5.1% and 1.3% respectively. CR rate of all AML was 71.9% and that of M 3, M 5 and M 6 was worse than the average. Five years continued complete remission (CCR) rate of M 2, M 3 and M 4 were 20-25%, while that of M 1 and M 5 were worse than the former. Myeloid-AML was 67% of AML, L + M-AML and lymphoid-AML were 27% and 6% respectively. CR and CCR rate of L + M-AML and lymphoid-AML were seemed to be better than those of myeloid-AML. Thus, the patients with AML, even though they have the blasts which express lymphoid markers, can be treated with AML directed therapy.     

Abnormal chromosome 16 in clonogenic eosinophils from a case of acute myeloid leukemia (FAB,M2)

A case of acute myeloid leukemia (AML, FAB M2) is described in which the leukemic karyotype showed several numerical and structural cytogenetic abnormalities including an abnormal chromosome 16 with breakpoint at band q22, monosomy for chromosomes 5 and 7, and a single pair of double minute chromosomes. There was no patient history of treatment for a previous malignancy or occupational exposure to mutagens. Bone marrow eosinophilia was seen at presentation for refractory anemia with excess blasts in transformation and when AML was diagnosed. When bone marrow buffy coat cells were cultured in soft agar in the presence of colony stimulating factor, 19% of the colonies and 20% of the clusters were of eosinophils. Cytogenetic examination of pooled eosinophil colonies showed the marker chromosomes that identified the leukemic population.