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。     

环孢素A治疗低增生性骨髓增生异常综合征疗效观察

目的：探讨环孢素A治疗低增生性骨髓增生异常综合征(hypo-MDS)的疗效。方法：对5例hypo-MDS患者采用环孢素A治疗，定期观察其外周血象和骨髓象，并随诊观察远期疗效。结果：5例中1例达CR，3例PR，1例NR，治疗3个月示出现严重毒副作用，随访中复发及无效病例改用CsA 小剂量化疗也取得一定疗效。结论：环孢素A治疗hypo-MDS疗效较高，值得临床试用。     

低增生性骨髓增生异常综合征与再生障碍性贫血鉴别诊断的研究进展

低增生性骨髓增生异常综合征是骨髓增生异常综合征的一种特殊类型,与再生障碍性贫血的临床和实验室表现相似,常给临床鉴别诊断带来一定困难.两者的鉴别诊断包括外周血参数、骨髓细胞形态学、骨髓活组织检查、造血祖细胞培养、细胞遗传学、分子生物学和细胞免疫表型分析等方面,文章就两者的鉴别诊断进行综述.     

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。     

白血病、骨髓增生异常综合征患者外周血NK细胞活性的研究

用￣（１２５）ＩＵＤＲ释放法体外测定３０例白血病、１３例骨髓增生异常综合征（ＭＤＳ）和１８例再生障碍性贫血（再障、ＡＡ）患者外周血ＮＫ细胞活性。结果表明：三组ＮＫ细胞活性均明显减低，说明ＮＫ细胞活性降低在三种疾病的发病过程中起重要作用。进一步分析ＮＫ细胞活性与病情变化有关，故认为，定期检测ＮＫ细胞活性有助于患者病情监测、疗效及预后判断。     

骨髓穿刺涂片与骨髓活检切片同步分析对诊断骨髓增生异常综合征的临床意义

目的:探讨骨髓穿刺涂片与骨髓活检切片同步观察对诊断骨髓增生异常综合征(MDS)的临床意义.方法:50例MDS病人采用骨髓抽吸、活检双标本一步法取材,同步观察其涂片和切片.结果:活检切片对骨髓增生程度的判断优于穿刺涂片.粒系、巨核系病态造血的检出率,活检切片高于穿刺涂片;红系病态造血的检出率,穿刺涂片高于活检切片.网状纤维增生的观察,活检切片优于穿刺涂片.结论:活检切片和穿刺涂片同步分析比常规穿刺涂片形态学观察更有利于提高MDS诊断的准确性.     

低增生性骨髓增生异常综合征临床分析

 目的 探讨低增生性骨髓增生异常综合征（hypo-MDS）的临床特征、实验室指标及治疗。方法 对8例hypo-MDS患者的临床特点、骨髓涂片及骨髓活检结果进行分析，用流式细胞仪测定T细胞亚群，采取个体化治疗方案，随访观察疗效。结果 8例患者均有2个以上部位骨髓增生低下、骨髓低细胞容积和不同程度病态造血。T细胞亚群分析结果显示5例有T细胞数目、CD+4／CD+8比例异常。治疗后2例基本缓解，3例部分缓解，2例进步，1例无效。结论 hypo-MDS以骨髓低细胞容积和病态造血为共同特征，表现为细胞免疫异常，采取个体化治疗原则可延长患者生存期。     

低增生性骨髓增生异常综合征治疗的进展

 低增生性骨髓增生异常综合征（Hypo-MDS）骨髓结构紊乱，病态巨核细胞增生明显，以骨髓低细胞容积和病态造血为共同特征，目前尚无统一的治疗标准，对其治疗应该引起注意。文章对Hypo-MDS治疗的研究进展进行了综述。     

Immunologic aspects of hypoplastic myelodysplastic syndrome

The pathophysiology of myelodysplastic syndromes (MDS) is multiple, complex, and poorly understood. In some cases of MDS, especially those in which the bone marrow is hypocellular, there is increasing experimental and clinical indication that an immune-mediated damage to hematopoietic precursors and changes in the hematopoiesis-supporting microenvironment contribute to disease development. Increased serum levels of type-1 cytokines, tumor necrosis factor-α (TNF-α), and interferon-γ (INF-γ), and oligoclonal expansion of cytotoxic T cells are observed in human MDS. In some cases, the immunologic attack to the marrow appears to be triggered by MDS-specific antigens, damaging the microenvironment and inducing cell apoptosis especially of normal progenitors. In murine models, dysregulation of osteoprogenitors leads to disrupted hematopoiesis of healthy hematopoietic progenitor and stem cells, eventually resulting in MDS and leukemia. In hypocellular MDS, marrow failure appears to be not only the result of ineffective erythropoiesis of abnormal clones, but also due to inhibition of normal progenitors. Immunosuppressive therapy with cyclosporine, anti-thymocyte globulin, or alemtuzumab may alleviate cytopenias and in some instances induce cytogenetic remission. However, not all patients respond to immunosuppression, and the identification of relevant biomarkers for an immune mechanism is necessary to identify those patients who may benefit from this treatment modality.     

骨髓增生异常综合征免疫表型特征及其临床意义

 骨髓增生异常综合征（MDS）患者骨髓细胞免疫表型在整个疾病过程中呈现出紊乱及异常表达,其中一些改变对其诊断、分型、预后和治疗等方面有一定的价值。就此方面的进展作一综述。     

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.     

Therapy-related leukemia and myelodysplastic syndrome: clinical, cytogenetic, and prognostic features

One hundred twelve patients who developed acute leukemia or a myelodysplastic syndrome (MDS) after chemotherapy or irradiation for another malignancy were reviewed. The median time from initial therapy to development of secondary leukemia or MDS was 71 months (range, 7 to 331 months). The initial malignancy was hematologic in 43%. An MDS presentation occurred in 57 patients (51%), 55% of whom subsequently transformed to acute leukemia. Chromosomal abnormalities were documented in marrow specimens from 70 of 89 patients with analyzable metaphases (79%; 69% of the total group). Compared with 34 patients with metachronous secondary leukemia without prior chemotherapy or irradiation, those with therapy-related leukemia exhibited a significantly higher frequency of abnormalities of chromosomes 5 and/or 7 (43% v 18%), and lower incidence of diploid karyotypes (18% v 50%). Chromosome 5 and/or 7 abnormalities were also significantly higher in patients previously treated with alkylating agents, procarbazine, and nitrosoureas (72% to 83%), compared with those who had received cyclophosphamide-based regimens (29%), other chemotherapies (14%), or irradiation alone (29%). The median overall survival from diagnosis of the secondary leukemia or MDS was 30 weeks. Survival was significantly shorter for patients with acute leukemia compared with MDS presentation (21 v 45 weeks); in the latter category, it was similar whether evolution to acute leukemia occurred or not. Of 72 patients treated with antileukemia therapy, 29% achieved complete remission (CR). A multivariate analysis of prognostic factors demonstrated the cytogenetic pattern to be the most important characteristic determining remission rate and survival. Other important prognostic features were the morphologic presentation (MDS v acute leukemia) for probability of achieving remission, and patient age and marrow blasts percentage for survival.     

112例骨髓增生异常综合征细胞遗传学分析

目的:探讨中国辽宁骨髓增生异常综合征(myelodysplastic syndrome,MDS)患者细胞遗传学异常特征。方法:回顾性分析2010年至2012年根据FAB及WHO标准诊断为MDS的112例患者。采用传统细胞遗传学(conventional cytogenetics,CG)及荧光原位杂交(fluorescence in situ hybridization,FISH)研究其分子遗传学改变。结果:112例患者中具有克隆性染色体异常46例,占41.1%。具有单独异常克隆40例(35.7%),两个异常克隆9例(8.0%),三个及以上异常克隆17例(15.2%);其中+8最常见,占26.8%。结论:染色体异常核型与WHO分型没有明显的相关性,但是复杂核型在RAEB-I及RAEB-II中更常见。