t（8;21）白血病的若干特征及其在急性白血病分型中的地位

为了解ｔ（８；２１）白血病的特征及在急性白血病分型中的地位，对４２例ｔ（８；２１）白血病患者作了回顾性分析。患者中数年龄为２７．５岁，男女各占半数。其白血病类型有Ｍ１２例、Ｍ２，３１例、Ｍ２ｂ５例、Ｍ４２例和ＭＤＳ－ＲＡＥ８２例。骨髓细胞染色体Ｒ带核型分析揭示典型ｔ（８；２１）易位４０例，简单和复杂变异ｔ（８；２１）易位各１例。２８例（６７％）可见正常核型的细胞。２６例（６１．９％）合并其它染色体异常，其中丢失Ｙ染色体１４例，丢失Ｘ染色体、９ｑ－和＋４各３例。结果提示：本组ｔ（８；２１）白血病的临床和血液学持征和国外报道基本一致；ｔ（８；２１）白血病不但包括大多数Ｍ２ｂ，还包括部分Ｍ２ａ和少数Ｍ１、Ｍ４及ＭＤｓ；ｔ（８；２１）白血病在急性非淋巴细胞白血病中的地位，以用Ｍ２／ｔ（８；２１）来表示较为恰当。     

急性白血病45例细胞遗传学分析

目的：研究急性白血病细胞遗传学变化,以及与急性白血病亚型的关系。方法：采用短期细胞培养法,Ｇ显带,对４５例急性白血病进行细胞染色体核型分布,并且与急性白血病ＦＡＢ分型进行相关性分析。结果：在４５例急性白血病中,发现５种共３６例染色体结构异常,４种为染色体相互易位,ｔ（８;２１）１６例（３５．６％）,见于ＡＮＬＬ－Ｍ２,Ｍ５;ｔ（９;２２）８例（１７．８％）,见于ＡＬＬ－Ｌ１,Ｌ２,ＡＮＬＬ－Ｍ１     

185例白血病骨髓染色体R显带研究

应用染色体Ｒ显带技术对１８５例急慢性白血病骨髓进行研究，异常核型检出率为８７．６％（１６２／１８５），对于质量差的白血病骨髓染色体，Ｒ显带较Ｇ显带成功率高，尤其是末端带畸变者。ＭＤＳ涉及１、３、５、７、８、２０号等染色体异常，ｔ（８；２１）易见于Ｍ２，（１５；１７）见于Ｍ３，ｔ（９；２２）见于９５％ＣＭＬ和少数Ｍ１ＡＬＬ。ＣＭＬ急变还出现ｉ（１７）。双Ｐｈ、＋３、３ｑ－等异常。遗传学检查有助于提高白血病诊断符合率，同时提示染色体复杂畸变的白血病患者预后较差     

白血病细胞诱导分化前后对正常人单个核细胞产生TNFα的影响

本文应用附拜醇酯、阿糖胞苷、高三尖杉酯碱、维甲酸和维胺酸等５种诱导分化剂诱导８例急性非淋巴细胞白血病患者原代白血病细胞和ＨＬ－６０细胞后，观察细胞（诱导分化前或后）条件培养液对正常人单个核细胞分泌肿瘤坏死因子α（ＴＮＦα）的影响。结果表明，诱导分化前白血病细胞条件培养液可抑制ＴＮＦα分泌，在诱导分化前有抑制作用的６例３０个白血病细胞标本中１７个标本（５６．７％）和ＨＬ－６０细胞在分化成熟后抑制作用     

家族性重症肌无力9家族20例分析

报告在１１２１例重症肌无力患者中发现家族性发病者２０例，占１．８％。男８例，女１２例，本病发病年龄较早，为９．３５±９．３８岁。尤以男性为著，为３．３８±１．６９岁，儿童期发病者占７０％（１４例）。≤９岁的年幼组中家族性重症肌无力高达３．１７％（１３／４１０）。半数以上为亲兄弟姐妹（１１例，５６％）。其中双胞胎４例（２０％），堂兄弟姐妹５例（２５％），８０％为眼型。全部患者对糖皮质激素疗法均有良好反应。     

t（4；11）易位的继发性急性淋巴母细胞性白血病

ｔ（４；１１）易位的继发性急性淋巴母细胞性白血病［英］／ＡｕｘｅｎｆａｎｔｓＥ…／／ＡｎｎＨｅｍａｔｏｌ．－１９９２，６５（３）．－１４３～１４６作者对过去１０年间２９７例急性淋巴母细胞性白血病（ＡＬＬ）进行细胞遗传学分析，发现１０例（３．３％）ＡＬ...     

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     

小儿伤寒多器官损害的临床特征

本文分析了１９９４年８月～１９９８年８月１４例小儿伤寒多器官损害病例资料,报告如下： １临床资料１４例中男９例、女５例,年龄＜３岁１例,～７ 岁５例,～１４岁８例．高热者Ｉ３例,其中驰张热６例,稽留热３例,不规则发热４例;各系统临床表现为：肝大４例,脾大２例;心音低钝３例,级脉２例,早搏２例,皮疹４例．血ＷＢＣ＜３ ×１０／Ｌ者 ３例（２３．１％）,３～１０×１０／Ｌ者 ７例（５７．７％）,＞１０ ×１０／Ｌ者４例（１９．２％）,ＰＬＴ＜１０×１０／Ｌ者２例（７．６％）,嗜酸性粒细胞绝对计数 ≤０． ０…     

贵州地区淋巴瘤类型分布

使用免疫组化法分析２５３例恶性淋巴瘤，应用改良的Ｔ、Ｂ非何杰金淋巴瘤（ＮＨＬ）的分类法进行分类。Ｂ细胞性淋巴瘤１３７例，占５４．１５％。其中慢性淋巴细胞性（１４．４％），小裂细胞性（１８．２５％），裂—无裂细胞性（２０．４４％），大裂细胞性（９．４９％），小无裂细胞性（５．１１％），大无裂细胞性（８．７６％）．Ｔ细胞淋巴瘤１１６例（４５．８５％）：其中慢性淋巴细胞性（１０．３４％），多形性（小细胞性）（２７．５９％），多形性（中细胞性）（１６．３８％），多形性（大细胞性）（６．０３％），透明细胞性（７．７６％），淋巴母细胞性（８．６２％）。两组各占７６％。结果说明改良法是适合中国淋巴瘤分类的。     

狼疮性肾炎患者淋巴细胞亚群比率和免疫球蛋白水平的变化

目的 探讨狼疮性肾炎（ＬＮ）患者的淋巴细胞亚群和免疫球蛋白（Ｉｇ）的变化及其意义。方法采用淋巴细胞的膜抗原双标记染色法及ＥＬＩＳＡ，对６０例ＬＮ患者的细胞与体液免疫功能进行前瞻性研究。结果①与对照组相比较，活动期ＬＮ患者的ＣＤ３＋ＣＤ４＋细胞的比率（Ａ组：伴肾病综合征者）为（ｌ６．３ ±７．９）％，Ｂ组（不伴肾病综合征者）为（２０．８±１０．１）％］和ＣＤ１６＋＋ＣＤ５６＋细胞的比率［Ａ组为（８．６±５．７）％，Ｂ组为（１５．２±６．２）％明显减少；ＣＤ３+ ＣＤ8+”细胞的比率［Ａ组为（４８．３±１０．７）％，Ｂ组为（３５．９±９．８）％］明显增高；ＣＤ３+ ＣＤ４+ ／ＣＤ３+ ＣＤ８＋细胞的比值＜１（Ａ组为０．４３±０．２１，Ｂ组为０．８７±０．２５），且Ａ组与８组相比较差异明显（Ｐ＜０．０５）。②与活动期ＬＮ患者相比较，治疗后处于稳定期的 ＬＮ患者 ＣＤ３＋ＣＤ４＋细胞的比率卜组为（２８．８±８．ｌ）％，Ｂ组为（３２．８± ７．ｌ）％］和 ＣＤ１６＋＋ＣＤ５６＋细胞的比率［Ａ组为（１８．９ ± １２．５）％，Ｂ组为（２４．０±８． ９）％，以及 ＣＤ３＋ＣＤ４＋／ＣＤ３＋ＣＤ８＋细胞的比值（Ａ组为 ０．９７±２．３，Ｂ组     

Immunohistochemical assessment of human bone marrow macrophages in hematologic disorders

Changes in bone marrow macrophages may be associated with abnormal hematopoiesis in various hematologic disorders. We immunohistochemically evaluated the density of macrophages in bone marrow trephine biopsies. In reactive erythroid hyperplasia (hemolytic anemia and megaloblastic anemia), the macrophages slightly increased in density, extending their cytoplasmic processes between hematopoietic cells. In erythroid hypoplasia (pure red cell aplasia), they became rounded and frequently had hemosiderin granules. There was no significant difference in the macrophage density in the hematopoietic area between erythroid hyperplasia and hypoplasia. The macrophages increased in density in myeloproliferative disorders (polycythemia vera, chronic myelogenous leukemia and primary thrombocythemia). In myelofibrosis, some macrophages became extremely elongated along the line of the fibroblastic cells. In contrast, in conditions in which myelopoietic activity is considerably impaired (aplastic anemia, acute leukemia and multiple myeloma), they significantly decreased in density. These results suggest that the morphologic change in bone marrow macrophages is associated with erythropoietic activity and that there is a correlation between macrophage density and myelopoietic activity.     

A retrospective study of the incidence and classification of bone marrow disorder in cats (1996–2004)

An 8-year retrospective study of bone marrow reports was conducted to evaluate the incidence and classification of feline bone marrow disorders. Bone marrow reports from 203 cats were reviewed. Blood smears, bone marrow aspiration smears, bone marrow core biopsy specimens, and case records were reviewed for all cats with the exception of those bone marrows reported to be nondiagnostic or cytologically normal. Bone marrows with nonneoplastic/nonmyelodysplastic pathologic changes (n=96) were subclassified into 16 categories. Frequently observed disorders included erythroid hyperplasia, nonregenerative immune-mediated anemia, pure red cell aplasia, aplastic anemia, bone marrow necrosis, myelofibrosis, and lymphocytosis. Dysmyelopoiesis (n=27) was subcategorized into myelodysplastic syndromes (n=20) and secondary (n=7) dysmyelopoiesis. Thirty-four cases of acute leukemia, 3 cases of chronic lymphocytic leukemia, and 14 cases of other neoplasia were identified. These results indicate that a relatively small group of disorders account for the majority of the feline bone marrow disorders. Routine evaluation of blood and bone marrow aspiration smears and core biopsy specimens is needed for proper classification of bone marrow disorders. Ancillary testing, including flow cytometry and immunophenotyping, are useful in some circumstances.These experiments comply with the current laws of the USA     

p53 expression in myeloid cells of myelodysplastic syndromes. Association with evolution of overt leukemia.

To assess p53 expression in the hematopoietic cells of the bone marrow in premalignant as well as malignant conditions, we examined immunohistochemically bone marrow biopsies from patients with myelodysplastic syndromes (MDS, n = 51), acute myeloid leukemia (n = 42) and as a nonneoplastic condition, aplastic anemia (n = 20) and samples from individuals who had no hematological disorder (control, n = 12). Nuclear accumulation of p53 protein was found in seven of 51 patients with MDS (14%) and two of 42 acute myeloid leukemia patients (5%), whereas patients with aplastic anemia and control subjects were uniformly negative for p53 protein. In the bone marrow of patient with MDS, p53-positive cells constituted about 5 to 30% of the total bone marrow cells. Two-color immunohistochemical analysis revealed that the p53-positive cells were also positive for the myeloid cell marker. Half of the MDS cases that evolved to overt leukemia (seven of 14) exhibited positive p53 reaction in the bone marrow at the time of initial diagnosis. This frequency (50%) was significantly higher than that in de novo acute myeloid leukemia cases. All of the seven MDS cases that exhibited p53 expression at the time of initial diagnosis developed overt leukemia later, and p53 expression was maintained throughout the progression of MDS. The results suggest that p53 mutations that occur in the myeloid cells in MDS may confer a growth advantage to these cells resulting in the progression to overt leukemia. Thus, immunohistochemical examination for p53 is very useful for predicting the evolution to overt leukemia from MDS.     

Histological and cytogenetic characterization of bone marrow in relation to prognosis and diagnosis of myelodysplastic syndromes

Bone marrow (BM) histology of 102 myelodysplastic syndromes (MDS) patients was analyzed retrospectively. All the cases were reclassified according to the World Health Organization (WHO) classification. Karyotype study was conducted for all except one. Fifteen of the MDS cases were hypoplastic. The cellularity in bone marrow histology is sometimes ineffective in the differential diagnosis of MDS and aplastic anemia (AA). Nonetheless, a marked decrease in the number of megakaryocytes (average, 0.3/mm(2); range, 0-2/mm(2)) even in the hyperplastic foci of the marrow of AA was the most important histological feature differentiating AA from MDS, whereas the number of megakaryocytes increased in most MDS cases (44/mm(2); range, 1-240/mm(2)) and also in hypoplastic MDS (14/mm(2); range, 8-26/mm(2)). Hyperplastic marrow had a significantly high frequency of progress to acute myeloid leukemia (AML) and hypoplastic MDS had a lower rate of progress to AML. Severe myelofibrosis had a significantly poor prognosis. An increase in CD34-positive cells in MDS indicated a high rate of progress to AML. As for the patients with refractory cytopenia with multilineage dysplasia (RCMD; the new category under the WHO classification), the increased number of megakaryocytes was correlated with poor prognosis.     

Histological differences between sternal and iliac bone marrow in various hematological diseases

Even in normal state, hematopoietic activity is different in terms of the site of bone marrow as well as age. The activity may also differ with bone marrow site in various hematological diseases. We chose 32 cases with various hematological diseases and examined their bone marrow histologically at two different sites (sternum and posterior iliac crest) at almost the same time. We studied the histological differences in 5 cases of malignant lymphoma, 15 cases of aplastic anemia, 8 cases of myelodysplastic syndrome, 2 cases of myeloproliferative syndrome and 2 cases of acute leukemia. In malignant lymphoma, the iliac marrow was slightly hypoplastic compared with sternal marrow but there were no differences in the components of hematopoietic cells, that were thought to reflect normal hematopoietic activity for their respective ages. In 5 among 15 cases of aplastic anemia, nodular hyperplastic areas were observed in sternal marrow even though iliac marrow was severely hypoplastic. The presence of a nodular hyperplastic area is useful for differential diagnosis between aplastic anemia and refractory anemia, because such a histological change was not observed in the cases of refractory anemia. In myeloproliferative syndrome and acute leukemia, there were no differences between sternal and iliac marrow. They were hyperplastic and had almost the same hematopoietic components.     

Total body irradiation in bone marrow transplantation. H?pital Saint-Louis results.

Total body irradiation was used in 22 patients as part of their conditionning regimen for bone marrow transplantation. Nine patients with acute leukemia received 1 000 cGy TBI in addition with chemotherapy. None of them survived and the main cause of death was interstitial pneumonitis (50%). 4 patients received 1 000 cGy with a lung shielding of 500 cGy. Two patients with acute leukemia died of leukemia and sepsis, two patients had aplastic anemia, one is surviving, the other died of severe GVHD and infectious complications. Nine patients with severe aplastic anemia strongly immunized by previous blood transfusions received 800 cGy TBI with a lung shielding of 400 cGy. No rejection was observed and 7 patients (63%) are currently alive. One patient died of interstitial pneumonitis probably related to CMV infection, one of subacute necrotizing hepatitis, two of severe acute GVHD. It is concluded from this study that TBI remains the best immunosuppressive conditioning regimen even in strongly immunized patients. It may be a contributing factor of the incidence and severity of interstitial pneumonitis. A reduction of the dose ot the lung to 400-500 cGy seems to decrease the severity of this complication.     

A study of bone marrow failure syndrome in children

Background: Bone marrow failure syndrome (BMFS), or aplastic anemia, includes peripheral blood single cytopenias, as well as pancytopenia due to inability of the marrow to effectively produce blood cells. Aim: To study the clinico-hematological profile and etiological factors of bone marrow failure syndrome in children. Setting and Design: This prospective study was carried out in the Department of Pediatrics of a university teaching hospital over 36 months. Materials and Methods: Children with pancytopenia (Hb 9 /L, platelet count < 100 x 10 9 /L) and bone marrow cellularity < 25% were included in the study. History of exposure to drugs, socioeconomic status, ethnicity and occupation of father were noted. Bone marrow aspiration; trephine biopsy; Ham test; viral studies for hepatitis A, B and C; and cytogenetic investigations were carried out. Statistical Analysis: Relative risk was estimated by odds ratio (OR) with 95% confidence interval (CI) in matched cases and controls. Results: Of the 53 children studied, 6 (11.3%) were diagnosed as Fanconi anemia. Two cases had features of myelodysplastic syndrome. Forty-five children were labeled as acquired aplastic anemia, of whom one had evidence of hepatitis B infection and two patients (5.8%) had paroxysmal nocturnal hemoglobinuria. Aplastic anemia was more common in children from family with lower socioeconomic status; in Muslims; and where the father's occupation was weaving, dyeing and painting. However, the number was small to make statistically significant conclusions. No correlation could be established with exposure to drugs. Conclusion: Fanconi anemia was responsible for approximately one-tenth of the cases of bone marrow failure syndrome. Majority of the patients had acquired aplastic anemia. Hepatitis B infection was an uncommon cause of acquired aplastic anemia.     

Evaluation of angiogenesis and vascular endothelial growth factor expression in the bone marrow of patients with aplastic anemia

It is generally appreciated that bone marrow function and growth of myelopoietic cells depends on an intact microvasculature. A pivotal regulator of angiogenesis is vascular endothelial growth factor (VEGF). Here, we describe analysis of VEGF expression and microvessel density in the bone marrow of patients with aplastic anemia by immunohistochemistry. Bone marrow was examined at diagnosis and at the time of hematological remission after immunosuppressive therapy using anti-thymocyte globulin, cyclosporin A, and glucocorticoids or allogeneic stem cell transplantation. At diagnosis, both VEGF expression and microvessel density were found to be significantly lower in aplastic anemia compared to normal bone marrow (aplastic anemia, 1.1 +/- 0.7 events per field, versus controls, 5.9 +/- 3.0 events per field; P < 0.05). In response to successful therapy, VEGF and microvessel density in the bone marrow increased substantially. Serum VEGF levels were also found to be significantly lower at diagnosis in aplastic anemia compared to healthy controls (aplastic anemia, 51 +/- 35 pg/ml versus controls, 444 +/- 220 pg/ml; P < 0.05). VEGF in the serum increased substantially after successful immunosuppressive therapy or stem cell transplantation (P < 0.05). Taken together, these data show that aplastic anemia is associated with reduced angiogenesis and reduced VEGF expression.     

Incidence and prognosis of cytomegalovirus infections following allogenic bone marrow transplantation

The incidence and the outcome of cytomegalovirus (CMV) infections were evaluated in 83 adult recipients of allogenic bone marrow transplantation. Virological and serological surveillance was performed weekly for 3 months posttransplant, and then every other week or every month until 1 year. CMV infection occurred in 45 patients, with a cumulative risk of 62% at 1 year and 66% at 2 years. In multivariate analysis, two factors significantly influenced the incidence of CMV infection: patients with pretransplant positive anti-CMV titres had a risk of infection of 72% at 1 year versus 33% for patients with negative titres. Patients with acute myeloid leukemia were also infected more frequently (85% at 1 year) than patients with acute lymphoblastic leukemia (56%), chronic granulocytic leukemia (45%), or aplastic anemia (47%). In both univariate and multivariate analysis, CMV infection was not associated with a worse prognosis. However, 5 (out of 10) cases of lethal interstitial pneumonitis were associated with CMV, and two patients died of possible CMV encephalitis. All these patients had been suffering from severe acute or chronic graft versus host disease.     

Hematopoietic Stem Cell Transplantation in Children and Young Adults with Secondary Myelodysplastic Syndrome and Acute Myelogenous Leukemia after Aplastic Anemia

Secondary myelodysplastic syndrome and acute myelogenous leukemia (sMDS/sAML) are the most serious secondary events occurring after immunosuppressive therapy in patients with aplastic anemia. Here we evaluate the outcome of hematopoietic stem cell transplantation (HSCT) in 17 children and young adults with sMDS/sAML after childhood aplastic anemia. The median interval between the diagnosis of aplastic anemia and the development of sMDS/sAML was 2.9 years (range, 1.2 to 13.0 years). At a median age of 13.1 years (range, 4.4 to 26.7 years), patients underwent HSCT with bone marrow (n = 6) or peripheral blood stem cell (n = 11) grafts from HLA-matched sibling donors (n = 2), mismatched family donors (n = 2), or unrelated donors (n = 13). Monosomy 7 was detected in 13 patients. The preparative regimen consisted of busulfan, cyclophosphamide, and melphalan in 11 patients and other agents in 6 patients. All patients achieved neutrophil engraftment. The cumulative incidence of grade II-IV acute graft-versus-host disease (GVHD) was 47%, and that of chronic GVHD was 70%. Relapse occurred in 1 patient. The major cause of death was transplant-related complication (n = 9). Overall survival and event-free survival at 5 years after HSCT were both 41%. In summary, this study indicates that HSCT is a curative therapy for some patients with sMDS/sAML after aplastic anemia. Future efforts should focus on reducing transplantation-related mortality.