骨髓增生异常／骨髓增殖性肿瘤的临床和实验室特征分析  

A clinical and laboratory investigation of myelodysplastic/myeloproliferative neoplasms

作　　者：武焕玲[1] 高文峰[1] 李元堂[1] 张之芬[1] 王倩[1] 孙慧[1] 田文君[1] 黄敏[1] 张炳昌[1] 

机构地区：[1]山东大学附属省立医院检验科,济南250021

出　　处：《中华检验医学杂志》2012年第9期832-837,共6页Chinese Journal of Laboratory Medicine

摘　　要：目的分析骨髓增生异常／骨髓增殖性肿瘤（MDS／MPNs）不同亚型临床和生物学特征的差异。方法将2002年8月至2010年8月于山东大学附属省立医院诊断的53例MDS／MPNs患者按2001年WHO分类标准分为4个组，其中慢性粒-单核细胞白血病（CMML）组24例、不典型慢性髓系白血病（aCML）组13例、幼年型粒-单核细胞白血病（JMML）组12例、MDS／MPN不能分类（MDS／MPN-U）组4例。分析各亚型临床首发症状、血常规参数、外周血及骨髓细胞形态学、免疫学以及细胞遗传学、分子遗传学特征。符合正态分布的计量资料用x±s表示，多组样本均数比较采用单因素方差分析，两两比较采用q检验。计数资料用百分率表示，用χ2检验进行比较，小样本量计数资料用Fisher精确检验。结果（1）首发症状：53例MDS／MPNs中46例（86．8％）患者面黄、乏力；33例（62．3％）患者脾肿大。JMML组发热和淋巴结肿大的频率最高（75．0％，75．0％），与CMML组（12．5％，12．5％）差异有统计学意义（χ2=14．89、17．98，P〈0．05）。（2）血常规：Hb（83．1±24．6）g／L；WBC（19．8±8．1）×109／L；PLT（158．7±108．2）×109／L。（3）外周血细胞分类：MDS／MPNs外周血单核细胞比值增高，可见原始细胞和多少不等的幼稚粒细胞。JMML组、CMML组单核细胞绝对值高（4．25±0．76、3．62±0．76），与aCML组（0．60±0．06）差异有统计学意义（q=40．7、23．8，P均〈0．05）。（4）外周血及骨髓细胞形态学：JMML组单核系病态造血发生率高达100％。（5）免疫学：15例行流式细胞术免疫学分析，13例（86．7％）MDS／MPNs原始细胞和髓系细胞免疫学表型异常。（6）53例MDS／MPNs中29例分析细胞遗传学，有12例（41．4％）染色体核型异常，没有Ph染色体，＋8和累及7号染色体异常的几率较高。（7）23例做BCR／ABL1、JAK2基因V617F突变�Objective To investigate distingwished clinical and experimental characteristics of the four main subtypes in myelodysplastic/myeloproliferative neoplasms （MDS/MPNs）. Methods MDS/MPNs 53 cases from Provincial Hospital Affiliated to Shandong University, including 24 cases CMML, 13 cases aCML, 12 cases JMML,4 cases MDS/MPN-U ,were analyzed regarding to 2001 WHO classification.Morphology （M） of peripheral and bone marrow blood cells were observed under microscope. FCM was used in immunological（I） analyse on blasts and myelomonocytes in peripheral blood and bone marrow. G-banding technique was used in cytogenetic （C）examination. PCR was used in molecular genetic （M） mutation detection. Numeric data, such as mean Hb, WBC, PLT et al, among several groups, were compared using Single-factor analysis of variance. Student-Newman-Keuls test was use in comparing means of two groups. Proportions, such as percentage of clinical features, immunological and cytogenetic abnormal cases among different groups, were compared using Chi-square test or Fisher exact test. Results （ 1 ） In the course of MDS/MPNs, there were 46 cases （ 86. 8% ） had paleness and fatigue 33 cases （ 62. 5% ） had palpable spleen. JMML had most fever and enlargement of lymph node （75.0% ,75.0% ）, statistically distinguished from CMML （ 12. 5%, 12. 5% ） （χ2 = 14. 89,17. 98, P 〈 0. 05 ）. （2） The hemoglobin was （ 83.1 ± 24. 6） g/L. WBC counts were （ 19. 8±8.1 ）×109/L . PLT counts were （ 158. 7 ± 108.2）×109/L. Immature neutrophils and blasts were found in peripheral blood. （3）JMML and CMML .had most monocytes absolute counts among the subtypes （ 4. 25±0. 76 ） （ 3.62±0. 76 ） . （ 4 ） Almost 100% JMML had monocytes abnormalities. （5）For 15 cases were detected immunological characteres by FCM, 13 cases showed abnormalities. （6） For 29 cases of MDS/MPNs had been analyzed chromosome karyotypes and 12 out of them （41.4%） were abnormal, Ph chromosomes and those AML-defining t

关 键 词：骨髓增生异常-骨髓增殖性疾病 白血病 粒-单核细胞 髓系 慢性 BCR—ABL阳性 细胞遗传学 分子生物学 

分 类 号：R551.3[医药卫生—血液循环系统疾病]