低增生性骨髓增生异常综合征和再生障碍性贫血鉴别

对１４例全血细胞减少、骨髓增生低下及巨核细胞减少或未见，并有不同程度造血异常的患者进行回顾性研究。发现低增生性骨髓增生异常综合征和再生障碍性贫血患者的骨髓小粒中细胞所占面积后者较前者少，有显著差异（Ｐ＜０．０５）。骨髓小粒内非造血细胞的比例后者较前者多，但两者无显著差异。骨髓中浆细胞比例后者较前者多，无统计学意义。再生障碍性贫血者骨髓红系及／或粒系可以有轻度造血异常。     

骨髓增生异常综合征难治性贫血与慢性再生障碍性贫血临床表现和血液学改变的比较研究

目的：探讨骨髓增生异常综合征的难治性贫血（MDS的RA）与慢性再生障碍性贫血（CAA）临床表现和血液学改变的鉴别,方法：对106例MDS的RA（MDS组）和142例CAA（AA组）住院患者的初诊资料进行回顾性比较研究,结果：MDS组患者的发病年龄和休检有肝,脾,淋巴结肿大的病例高于AA组（P＜0．005,P＝0．000）,骨髓涂片检查表现为二系以上造血细胞DNA复制紊乱的病态造血,骨髓增生活跃以上的病例高于AA组,P＜0．005,MDS组中性粒细胞碱性磷酸酶（NAP）积分降低,有核红细胞糖原染色（PAS）阳性的病例均高于AA组,P均等于0．0000,骨髓病理检查MDS组的造血细胞容积和网硬蛋白纤维阳性的病例均高于AA组（P＜0．005,P＝0．000）,骨髓粒一单祖细胞（GM－CFU）培养集落,集丛,丛／落比和急性非淋巴细胞白血病祖细胞（L－CFU）培养集落数均高于AA组,P均＜0．001,结论：骨髓涂片和骨髓病理检查以及骨髓GM－CFU和L－CFU培养是鉴别MDS的RA与CAA重要的实验室检查。     

骨髓增生异常综合征和再生障碍性贫血患者骨髓CD34+细胞测定

 目的 检测骨髓增生异常综合征（MDS）和再生障碍性贫血（AA）患者骨髓CD+34细胞占单个核细胞（MNC）的比率,以探讨二者可能的发病机制。方法 用流式细胞术（FCM）检测22例MDS患者、13例AA患者及12例非血液病患者骨髓CD+34细胞占MNC的比率。结果 AA组与对照组、AA组与MDS-RA组、AA组与MDS-RAEB组、MDS-RA组与MDS-RAEB组的骨髓MNC中CD+34细胞的比率的比较差异有统计学意义（P＜0.05）。大多数重型AA（SAA）患者（3／4）及很少慢性AA（CAA）患者（1／9）的骨髓MNC中的CD+34细胞的比率＜0.1 %。结论 骨髓CD+34细胞的检测有助于判断AA患者病情及MDS患者的预后,亦可用于鉴别AA和MDS。     

骨髓增生异常综合征与再生障碍性贫血并发自身免疫性疾病的临床分析

 目的　探讨骨髓增生异常综合征（MDS）与再生障碍性贫血（AA）并发自身免疫性疾病（AID）的发病特点及治疗学特点。方法　对该院111例MDS患者与56例AA患者的临床资料进行回顾性分析与随访观察。结果　111例MDS患者中有9例并发AID（8.1 %）,56例AA患者中有2例并发AID（3.6 ％）,并发的AID以自身免疫性溶血性贫血（36.4 ％）与白塞病（18.2 ％）多见。5例患者AID发病在前,4例患者MDS和（或）AA与AID同时发病,2例患者MDS发病后3年并发AID。结论　MDS和（或）AA与AID具有一定的内在相关性。     

再生障碍性贫血、骨髓增生异常综合征转变的急性白血病预激方案化疗完全缓解1例

患者,男,18岁,2004年2月6日因“乏力2个月”入院。既往体健,为体校学生。入院检查：T36．5℃,P84次／min,BP14．63／9．31kPa(110／70mmHg),R18次／min,贫血面容,巩膜无黄疸,皮肤无皮疹及出血点,浅表淋巴结未触及肿大。舌黏膜正常,咽不红。胸骨无压痛,心肺未及阳性体征。腹平软,肝、脾未触及。     

地中海贫血合并骨髓增生异常综合征一例

患者 男,17岁,于20 d前无明显诱因出现肌肉疼痛,以四肢明显伴头昏、乏力,无畏寒、发热及出血,无明显头痛,自幼有地中海贫血病史,体检:体温36.5℃,神清,贫血貌,浅表淋巴结未触及,胸骨压痛,双肺呼吸音清晰,未闻干湿啰音,超声示肝质地不均,脾大.     

再生障碍性贫血伴阵发性睡眠性血红蛋白尿综合征合并骨髓瘤一例

患者 女性,64岁. 于2001年6月因无明显诱因出现面黄、乏力、齿龈渗血、皮肤出血点、瘀斑入住当地医学院附属医院.血常规示:血红蛋白(Hb)80 g/L,白细胞计数(WBC) 1.4 ×109/L,红细胞计数(RBC)2.30 ×1012/L,血小板计数(Plt)6×109/L. 随后行骨髓象检查结果示:有核细胞增生减低,粒、红两系少见,淋巴细胞相对增多,浆细胞易见,巨核细胞缺如.诊断为再生障碍性贫血(AA).予口服司坦唑醇、环孢素治疗,丙种球蛋白2.0 g×7 d静脉滴注,间断输血及血小板,茵陈蒿汤1剂/d,口服再生胶囊、地黄止血胶囊对症支持治疗,病情控制相对稳定. 2005年7月因间断出现酱油色尿、双目视物不清入院治疗.入院后检查血常规:Hb 32 g/L,WBC 1.2× 109/L,RBC 1.03×1012/L,Plt 16×109/L.随后行骨髓象检查结果示:红系增生活跃,以中晚期幼红细胞红居多,占0.475.溶血试验:酸化溶血试验、蔗糖溶血试验、抗人球蛋白试验均阴性;肝、肾功能:天门冬氨酸氨基转移酶89 U/L、尿素氮13.76 mmol/L、肌酐90.30μmol/L,其他检测项目均正常;流式细胞术检测:外周血粒细胞CD5548.40 %,CD5956.19 %,红细胞CD5571.34 %,CD5968.15 %.诊断为再生障碍性贫血-阵发性睡眠性血红蛋白尿(AA-PNH)综合征. 应用胸腺肽、多抗甲素、达那唑、叶酸、维生素B12等药物治疗,曾给予甲泼尼龙冲击治疗,茵陈蒿汤1剂/d、保肝、抗感染等对症治疗,患者病情平稳出院. 2012年11月患者病情呈进行性加重,再次住院治疗.入院后血常规示:Hb 18 g/L,WBC 2.13×109/L,RBC 0.51×1012/L,Plt 4×109/L,骨髓象检查显示浆细胞增多,占0.195,以成熟浆细胞为主,可见双核浆细胞,成熟红细胞呈缗钱状排列.     

Therapy may unmask hypoplastic myelodysplastic syndrome that mimics aplastic anemia

BACKGROUND: Rarely, patients who present with pancytopenia and are diagnosed initially with aplastic anemia (AA) subsequently develop a myelodysplastic syndrome (MDS). There has been controversy regarding whether the initial diagnosis of AA is correct or whether these patients have hypocellular MDS at the onset of pancytopenia. METHODS: The authors studied bone marrow (BM) specimens from patients who were diagnosed initially with AA and subsequently with MDS from a cohort of 128 consecutive patients who had AA during the period from 1993 to 2004. Cytogenetic and fluorescence in situ hybridization (FISH) analyses were performed to assess for monosomy 7 retrospectively in a subset of patients. RESULTS: Twelve patients were identified (age range, 26-79 years). At the time they were diagnosed with AA, there was no evidence of dysplasia, the median BM cellularity was 5% (range, from <1% to 15%), and all patients had a normal karyotype. Therapy for 11 patients included immunomodulating agents, which were accompanied by growth factors in 4 patients and 1 patient underwent BM transplantation. One patient received growth factors only. The median interval to the diagnosis of MDS was 9 months (range, 2-43 months). The median BM cellularity was 30% (range, 5-90%), and dysplastic changes were observed in all patients. Nine patients had an abnormal karyotype, and monosomy 7 was the most common abnormality (n = 5 patients). FISH detected monosomy 7 in 6 samples at the time MDS was diagnosed and in 2 samples at the time AA was diagnosed. CONCLUSIONS: The detection of monosomy 7 in specimens that were considered AA and the short time interval to a subsequent diagnosis of MDS suggests that these patients had hypoplastic MDS at the onset of pancytopenia. Therapy may allow the detection of MDS by enhancing cell growth.     

骨髓增生异常综合征和再生障碍性贫血患者异基因造血干细胞移植的时机选择:第56届美国血液学会年会报道

介绍第56届美国血液学会(ASH)年会关于骨髓增生异常综合征(MDS)和再生障碍性贫血(AA)患者进行异基因造血干细胞移植的时机选择的报道.同种异体造血干细胞移植(HSCT)治疗MDS是疾病治愈的有效途径,但病死率也很高.对于低危和中危-Ⅰ MDS患者,应尽量延后HSCT的应用时间.但是对中危-Ⅱ和高危MDS患者,在确诊后应尽快进行HSCT,其生存期明显优于延后HSCT的患者.HSCT前的预处理方案可以选择阿扎胞苷、白血病形式的诱导化疗或联合以上2种治疗.HSCT已被证实可以治愈重型AA,但新诊断的患者中HLA相合的同胞供者仅占1/4.总之,HLA匹配的相关和无关供者HSCT会成为大多数高危MDS和初发重型AA的治疗选择.     

骨髓增生异常综合征的诊治进展

骨髓增生异常综合征(MDS)是一组起源于造血干/祖细胞的获得性克隆性疾病,以无效造血和易转化为急性白血病为特点.第58届美国血液学会(ASH)年会在MDS的临床研究方面,共涉及"慢性粒-单核细胞白血病(CMML)和MDS的生物学治疗"高危MDS的临床研究"低危MDS的临床研究"MDS的诊断和易感特征"MDS相关细胞学突变对预后的影响"等方面,文章结合会议内容对MDS的诊治进展作一介绍.     

Alemtuzumab, fludarabine and melphalan as a conditioning therapy in severe aplastic anemia and hypoplastic myelodysplastic syndrome--single center experience

BACKGROUND: Allogeneic hematopoietic stem cell transplantation is the treatment of choice in young patients with severe aplastic anemia. The main causes of failure after this procedure are graft versus host disease, infections and graft failure, often exacerbated by large numbers of transfusions and prolonged disease duration before transplant. METHODS: We report the results of allografting following conditioning with fludarabine, alemtuzumab and melphalan in: five patients with severe aplastic anemia and one with hypoplastic myelodysplastic syndrome. All patients had matched sibling donors. Source of hematopoietic stem cell was: bone marrow-2, blood-3, bone marrow and blood-1. The age of recipients was 18-26 years. Four patients received their graft as the first line therapy and two after failure of cyclosporine and antithymocyte globulin treatment. Number of transfused units including red blood cells and platelets before transplantation was 8-100 (median: 22) and 10-32 (median: 11), respectively. All donors and recipients were CMV-seropositive. Conditioning consisted of: alemtuzumab 30 mg/d (day -7 to -5), fludarabine 30 mg/m(2) (days -7 to -3) and melphalan 140 mg/m(2) at the day -2. RESULTS: The time to granulocytes and platelets recovery was 15 and 25 days, respectively. All patients achieved full donor chimerism on day +60. Only two patients needed ganciclovir as preemptive therapy. Recurrent parvovirus B19 infection with pure red cell aplasia and acute viral B hepatitis was observed in one case. Pure red cell aplasia was successfully treated with immunoglobulins and cyclosporine discontinuation. With a follow-up of 16-39 (median: 29) months all patients are alive, and neither graft failure nor graft versus host disease, or any no other severe complications, was observed. CONCLUSIONS: Our study suggests that transplantation of hematopoietic stem cell using alemtuzumab, fludarabine and melphalan as a conditioning therapy is safe, inexpensive and effective treatment for patients with severe aplastic anemia, including multi-transfused adults having their disease for a long time.     

难治性贫血与巨幼细胞贫血、再生障碍性贫血的细胞形态学对比分析

目的:探讨骨髓异常增生综合征难治性贫血(MDS-RA)与巨幼细胞贫血(MA)、再生障碍性贫血(从)的细胞形态学特征.方法:回顾分析80例MDS-RA、198例MA和100例AA的血常规、外周血细胞形态、骨髓涂片、骨髓病理活检及骨髓细胞铁染色的特点.结果:三者均表现为不同程度的血细胞减少,血片可见幼稚细胞及有核红细胞,骨髓内外铁不同程度的增加,MDS-RA骨髓中红系以中、晚幼红的巨幼变为主(61.3％),出现多核、核碎裂、毫周氏小体.MA骨髓中,红系各个阶段均增生,以早幼红、中幼红及晚幼红的巨幼变为主(95％).AA骨髓中红系以炭核样红细胞增生为主.MDS-RA和MA粒系均表现出骨髓象病态造血,粒系表现为核浆发育失衡,出现巨晚幼、巨杆状核、细胞核肿胀、多分叶核、环状核,26.3％的MDSRA巨幼样变和畸形核比例明显低于MA(95％).MDS-RA巨核系出现巨大血小板及淋巴样小巨核细胞,MA巨核细胞体积增大,核质疏松,多呈分叶型,胞质内颗粒减少,并且能见到小巨核细胞,但未见到淋巴样的小巨核细胞.低增生的MDS-RA与AA骨髓病理活检涂片区别明显.结论:MDS-RA与MA、从虽然细胞形态具有相似性,但又具有各自的不同特征.这些特征为这三种疾病的诊断和鉴别提供了依据和线索.     

骨髓增生异常综合征各亚型染色体核型分布与预后的关系

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。     

骨髓增生异常综合征最新研究进展

骨髓增生异常综合征（MDS）是一组由于造血干/祖细胞水平损伤而产生的获得性克隆性疾病,以无效造血和易转化成急性白血病为特点。近年来其分子发病机制、临床新药及新的联合用药、免疫治疗、造血干细胞移植方面都发展迅速。文章结合第57届美国血液学会年会相关报道,着重就近两年关于 MDS 研究的几个亮点进行综述。     

骨髓增生异常综合征相关基因突变的研究进展

骨髓增生异常综合征（MDS）是一组骨髓造血干细胞恶性克隆性疾病。随着分子生物学技术在科学研究和临床实践中的广泛应用,已有研究表明基因突变是 MDS 发生及进展的重要原因,MDS 临床异质性大小与基因突变的多样性密切相关,基因研究在 MDS 诊断、分型和预后判断中将发挥越来越重要的作用。文章对近年来 MDS 常见基因突变的研究进展进行综述。