骨髓增生异常综合征转为急性白血病1例报告

患者女,52岁,主因进行性面白乏力8a,加重伴间断发热、齿龈渗血1个月,于2013年lO月10日以急性白血病（AML）收入院。2005年7月初,患者因无明显诱因出现面白乏力、活动后心慌气短于当地医院就诊,经骨髓穿刺检查诊断为骨髓增生异常综合征（MDS）／难治性贫血伴原始细胞增多（RAEB）-Ⅱ,未予特殊治疗。2005年7月19日转来我院,骨髓穿刺检查示增生活跃;粒系增生,     

骨髓增生异常综合征向急性髓细胞白血病转化的骨髓象特征

随着对急性白血病研究的深入 ,急性白血病的前期阶段 ,尤其是由骨髓增生异常综合征 ( MDS)转化为急性髓细胞白血病 ( AML)的过程 ,以及与其相关的急性白血病的骨髓细胞学特征 ,对揭示 MDS与急性白血病的内在关系临床治疗与预后有重要的意义。1 995～ 2 0 0 2年 ,我们连续观察 2 6例在向 AML转化中以及转化后的 MDS骨髓特征。现报告如下。1　资料与方法1 .1　临床材料　本组 2 6例均为本院就诊患者 ,男 1 6例 ,女 1 0例 ,平均年龄 38.6岁。其中 MDS分型难治性贫血 ( RA) 6例 ,难治性贫血伴铁粒幼细胞增多( RAS) 2例 ,难治性贫血伴…     

骨髓增生异常综合征转化成急性白血病12例观察

骨髓增生异常综合征(MDS)是以难治性贫血或伴有其他血细胞减少而骨髓增生和形态异常的多相性造血功能紊乱为主要表现,临床上预后不良,部分患者可转化成急性白血病(AL),本文收集我院1982年以来MDS转化成AL(MDS→AL)12例,与AL     

CAG方案治疗中高危骨髓增生异常综合征和急性髓系白血病的疗效观察

目的:观察阿糖胞苷、阿克拉霉素和粒细胞集落刺激因子联合方案(CAG方案)治疗中、高危骨髓增生异常综合征(MDS)和老年初治、难治、复发和继发于MDS的急性髓系白血病(AML)的临床疗效及不良反应。方法:应用CAG方案治疗MDS9例和AML23例,完成1个疗程后评估疗效,治疗失败患者则退出观察,有效者继续接受1个疗程治疗。结果:9例MDS临床均有效,其中完全缓解4例(44.4%)。部分缓解3例(33.3%),血液学进步伴骨髓缓解1例(11.1%),骨髓缓解1例(11.1%)。AML临床总有效13例(56.5%),其中完全缓解9例(39.1%),部分缓解4例(17.4%)。大部分患者出现了可以耐受的轻微不良反应,主要表现为骨髓抑制。结论:CAG治疗中、高危MDS和预后差的AML安全有效,长期疗效需进一步观察。     

030 306例治疗相关性骨髓增生异常综合征和髓系白血病的临床细胞遗传学联系

治疗相关性骨髓增生异常综合征和髓系白血病(t—MDS／t—AML)是化疗／放疗后一突出的临床综合征。本文报道了306例化疗／放疗患者细胞形态学及遗传学分析评估。     

联合化疗治疗高危组骨髓增生异常综合征及其转化的急性髓系细胞白血病疗效分析

目的了解联合化疗治疗高危组骨髓增生异常综合征(MDS)及其转化的急性髓系细胞白血病(post MDS-AML)的疗效和影响因素.方法 24例高危组MDS和23例post MDS-AML患者接受联合化疗方案化疗(DA方案31例,HA方案13,IA方案3例),联合化疗加用造血生长因子17例,单用联合化疗30例.采用2000年MDS国际工作组疗效评定新标准评价47例患者的联合化疗疗效,并评估MDS国际预后积分系统(IPSS)的临床意义.结果 14例(29.8%)患者获得完全缓解(CR),部分缓解(PR)10例(21.3%),稳定状态(SC)2例(4.3%),失败(failure)21例(44.7%),总有效率51.1%.高龄组(年龄超过50岁)的CR率(53.8%)明显高于年龄小于50岁的低龄组(20.6%,P=0.037).IPSS积分系统中染色体核型分组(Good组,Intermediate组和Poor组)的CR率分别为76.9%,23.5%,0%(P<0.01),3组间的总有效率(76.9%,64.7%和11.1%),失败率(23.1%,29.4%,77.8%)均有统计学差异.姐妹染色体分染(SCD)阴性组的CR率(26.3%)显著低于阳性组的CR率(71.4%,P=0.036),且阴性组的总有效率(52.6%)也低于阳性组(100%,P=0.024).DA方案的CR率(38.7%)和总有效率(61.3%)明显高于HA方案CR率(7.7%,P=0.04)和总有效率(23.1%,P=0.021),并且DA方案的失败率(32.3%)显著低于HA方案的失败率(76.9%,P=0.007).结论高危组MDS及post MDS-AML是一组难治性疾病,约51%的患者可从联合化疗中获益.染色体核型异常和姐妹染色体分染对化疗疗效有预后意义.     

白塞病合并骨髓增生异常综合征转化急性粒细胞白血病一例

患者 :男 ,5 7岁。因反复口腔溃疡 30年 ,周期性发热 2年 ,头晕乏力 1年于 1997年 8月 14日入院。 196 7年始出现反复发作口腔黏膜疼痛性溃疡 ,1～ 2个月发作 1次 ,1周左右自愈。 1995年 4月始出现周期性发热 ,常于月初发作 ,体温 38～ 39℃ ,持续 3～ 7ｄ自动退热 ,伴口腔溃疡     

骨髓增生异常综合征继发急性白血病的治疗

用常规剂量联合化疗治疗由骨髓增生异常综合征演变而来的继发性急性髓系白血病（SAML）16例,完全缓解率31.3%,部分缓解率18.7%,总有效率5O.0%。与原发性急性髓系白血病相比,骨髓抑制期长,缓解率低,但治疗相关性死亡率无明显增加。证明对SAML患者采用常规剂量联合化疗是可行的。     

骨髓增生异常综合征转纯红系白血病一例

纯红系白血病是一种少见类型的急性白血病,老年发病多见,临床进展较快,中位生存期短,预后差。本研究中,我们分析1例骨髓增生异常综合征(MDS)转化纯红系白血病临床表现、治疗经过及临床诊断,并结合2016年世界卫生组织对造血和淋巴组织肿瘤分类关于红白血病的修订进行文献复习。     

An antecedent diagnosis of refractory anemia with excess blasts has no influence on mobilization of peripheral blood stem cells and hematopoietic recovery after autologous stem cell transplantation in acute myeloid leukemia

Several studies have reported data on factors influencing mobilization of peripheral blood stem cells (PBSC) in non-myeloid malignancies. On the contrary, data from patients with acute myeloid leukemia (AML) are very limited, in particular, as the impact of an antecedent diagnosis of refractory anemia with excess blasts (RAEB) on mobilization of PBSCs as well as hematopoietic recovery after autologous stem cell transplantation (ASCT) is concerned. We retrospectively analyzed a cohort of 150 consecutive AML patients in first complete remission in order to make a comparison between patients with de novo AML and secondary AML (s-AML) in terms of CD34 positive (CD34+) cells mobilization and number of leukapheresis needed to collect at least one single stem cell graft. Data concerning hematopoietic recovery after ASCT were also compared. The successful mobilization rate (>2 x 10(6) CD34+ cells/kg) was comparable between de novo AML patients (87%) and those with s-AML (76%), P:0.21. No statistically significant difference was found in terms of either median number of CD34+ cells collected (P:0.44) or CD34+ cells peak in peripheral blood (P:0.28). Both groups of patients needed a median of two apheresis (P:0.45) and no difference was found on the median number of CD34+ cells collected per single apheresis (P:0.59). Finally, neutrophil and platelet recovery after ASCT were comparable between the two groups. An antecedent diagnosis of RAEB has no impact on mobilization and collection of PBSCs in AML as well as on hematopoietic recovery after ASCT.     

HIV and refractory anemia with excess blasts (RAEB)

We report the case of a 36 year old man who was hospitalized with pneumonia and pancytopenia with refractory anemia with excess blasts confirmed by bone marrow biopsy. He was subsequently found to have advanced HIV infection. Both the HIV infection and the myelodysplastic syndrome responded to highly active anti-retroviral therapy (HAART) with sustained normalization of his hematologic abnormalities within 79 days.     

Refractory anaemia with excess of blasts terminating as Ph1 negative chronic myeloid leukaemia

A case of refractory anaemia with excess of blasts (RAEB) terminating with clinical and haematological picture of Ph¹ negative chronic myeloid leukaemia (CML) is reported. It is suggested that the same abnormal clone of cells is responsible for the initial picture of the RAEB and the terminal CML picture.     

Refractory anemia with excess of blasts: A multivariate analysis of prognostic factors in 91 patients and a simplified scoring system for predicting survival

Abstract: Prognosis in myelodysplastic syndromes is extremely variable. The prognostic value of the FAB classification has been demonstrated in many studies. However, within the same FAB subtype, some patients may experience prolonged survival, whereas others die in a few weeks. This prognostic heterogeneity makes the therapy decision difficult. In an attempt to identify significant prognostic factors for survival in refractory anemia with excess of blasts (RAEB), clinical and hematological characteristics were analyzed in 91 patients. Multivariate regression analysis showed that bone marrow total blast cells percentages, sex and hemoglobin level were the characteristics significantly associated with survival. A scoring index based upon these three characteristics may be proposed and had a great prognostic value (p < 0.00001). It allows us to separate patients into three groups with low, intermediate and high score with a median survival of 239, 133 and 45 days for each group respectively. This scoring index may be useful in the design of therapy and analysis of future clinical trials. However, its predictive value needs to be confirmed in other series.     

Transformation of Myelodysplastic Syndrome to Acute Lymphoblastic Leukemia in a Child

Childhood myelodysplastic syndrome (MDS) is an uncommon condition. Unlike adult MDS, pediatric patients have a more progressive course and rapidly transform to acute myeloid leukemia. Evolution to acute lymphoblastic leukemia is extremely rare. We report a 5 year old female child who presented with refractory anemia with excess blasts and transformed into acute lymphoblastic leukemia 4 months after initial diagnosis.     

Redefining monosomy 5 by molecular cytogenetics in 23 patients with MDS/AML

Deletion of the long arm of chromosome 5 [del(5q)] or loss of a whole chromosome 5 (-5) is a common finding, arising de novo in 10% of patients with myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML) and in 40% of patients with therapy-related MDS or AML. We investigated by molecular cytogenetics 23 MDS/AML patients for whom conventional cytogenetics detected a monosomy 5. Monosomy 5 was redefined as unbalanced or balanced translocation and ring of chromosome 5. Loss of 5q material was identified in all 23 patients, but one. One copy of EGR1(5q31) or CSF1R(5q33-34) genes was lost in 22 of the 23 patients. Chromosome 5p material was a constant chromosomal component of derivative chromosomes or rings in all patients, but one. Sequential fluorescent in situ hybridization studies with whole chromosome paints and region-specific probes, used as a complement to conventional cytogenetic analysis, allow a better interpretation of karyotypes in MDS/AML patients.     

Refractory anaemia with excess of blasts (RAEB): analysis of reclassification according to the WHO proposals

The French-American-British (FAB) classification assigns patients with myelodysplastic syndromes to the category of refractory anaemia with excess blasts (RAEB) if they have a medullary blast count of 5-20%, and/or a peripheral blast count of 2-5%. The new World Health Organization (WHO) classification subdivides RAEB into RAEB I with a medullary blast count < or =10% and a peripheral blast count < or =5% and RAEB II with >10% medullary and/or >5% peripheral blasts. RAEB II is also diagnosed if Auer rods are present. In 558 patients, we analysed these subtypes of RAEB in terms of haematological characteristics, karyotype anomalies and prognosis. RAEB I was diagnosed in 256 and RAEB II in 302 patients. In the RAEB II group, 22% of patients had >5% peripheral blasts or the presence of Auer rods. The median survival was 16 months for RAEB I as compared with 9 months for RAEB II. Patients with Auer rods, regardless of their medullary and peripheral blast count, had no worse prognosis. No significant differences were identified between the RAEB subtypes with respect to clinical, morphological, haematological and cytogenetic parameters. The survival data support the WHO reclassification of RAEB based on peripheral and medullary blast counts and Auer rods. The WHO classification is useful for diagnosis and provides risk stratification, supported by cytogenetic data for clinical decision making, identifying those RAEB patients with an unfavourable prognosis who should be offered chemotherapy or stem cell transplantation.     

Prolonged administration of erythropoietin increases erythroid response rate in myelodysplastic syndromes: a phase II trial in 281 patients

Treatment with recombinant human erythropoietin (rHuEpo) improves anaemia in approximately 20% of patients with myelodysplastic syndromes (MDS). We investigated the potential advantage of a prolonged administration of rHuEpo to achieve higher erythroid response rates (RR) in 281 MDS patients: 118 with refractory anaemia (RA), 77 with refractory anaemia and ringed sideroblasts (RARS), 59 with refractory anaemia with excess of blasts and blast count < 10% (RAEB-I), and 27 with RAEB and blast count between 11-20% (RAEB-II). rHuEpo was given subcutaneously at a dose of 150 U/kg thrice weekly, for a minimum of 26 weeks. Response to treatment was evaluated after 12 and 26 weeks of therapy. The overall RR was 45.1%; the RR for RA, RARS, RAEB-I and RAEB-II were 48.3%, 58.4%, 33.8% and 13% respectively. A significant increase in RR was observed at week 26 in RA, RARS and RAEB-I patients, as the response probability increased with treatment duration. The RR was higher in the good cytogenetic prognostic group and serum Epo level of > 150 U/l at baseline predicted for non-response. The median duration of response was 68 weeks and the overall risk of leukaemic transformation was 21.7%. These results suggest that prolonged administration of rHuEpo produces high and long-lasting erythroid RR in MDS patients with low blast counts, particularly in those with pretreatment serum Epo levels of < 150 U/l and good cytogenetic prognosis.     

CD 34 Immunotyping of blasts in myelodysplasia

Summary We studied the expression of the hematopoietic progenitor cell antigen CD 34 in six patients with refractory anemia with excess of blasts (RAEB), five patients with RAEB in transformation (RAEB-T), and seven patients with chronic myelomonocytic leukemia (CMML). Immunocytochemical labeling of bone marrow cells was performed by an indirect immunoperoxidase method with preservation of morphological details. The cells were stained with May-Grünwald-Giemsa, photographed, destained, and immunolabeled by the immunoperoxidase technique. We found 1.5±0.5% blasts and 0.8±0.4% CD 34⁺ blasts in normal bone marrow. The CD 34 positivity of blasts was 53±9%. The patients with RAEB showed 1.7±1.4% CD 34⁺ blasts. The CD 34 positivity of blasts (11.8±5.6%) was lower than in normal bone marrow. The patients with RAEB-T had a higher percentage of CD 34⁺ blasts (7.33.4) and a higher CD 34 positivity of blasts (28.2±14.6%) than patients with RAEB. The CMML patients showed a percentage of CD 34⁺ blasts and a CD 34 positivity of blasts in the range of RAEB. We found an increase of promonocytes (PMC) in 5/7 patients. In some patients the PMC were CD 34 positive. Our results indicate that the increase of blasts in REAB is related to CD 34-negative blasts. With progression to RAEB-T the percentage of CD 34-positive blasts increased. Some of the CMML patients also showed a population of CD 34-positive PMC. A clone of undifferentiated CD 34-positive cells is characteristic for patients with these types of myelodysplasia.This work was presented at the Annual Congress of the German and the Austrian Society of Hematology and Oncology, Essen, 10–13 October 1993