骨髓增生异常/骨髓增殖性肿瘤的临床和实验室特征分析
골수증생이상/골수증식성종류적림상화실험실특정분석
A clinical and laboratory investigation of myelodysplastic/myeloproliferative neoplasms
  • 万方数据
    中华检验医学杂志 중화검험의학잡지
    CHINESE JOURNAL OF LABORATORY MEDICINE
    2012年 9期 832-837 ,共6页

    武焕玲%高文峰%李元堂%张之芬%王倩%孙慧%田文君%黄敏%张炳昌

    무환령%고문봉%리원당%장지분%왕천%손혜%전문군%황민%장병창

    骨髓增生异常-骨髓增殖性疾病%白血病,粒-单核细胞,慢性%白血病,髓系,慢性,BCR-ABL阳性%细胞遗传学%分子生物学 骨髓增生異常-骨髓增殖性疾病%白血病,粒-單覈細胞,慢性%白血病,髓繫,慢性,BCR-ABL暘性%細胞遺傳學%分子生物學
    골수증생이상-골수증식성질병%백혈병,립-단핵세포,만성%백혈병,수계,만성,BCR-ABL양성%세포유전학%분자생물학
    Myelodysplastic-Myeloproliferative diseases%Leukemia,myelomonocytic,chronic%Leukemia,myelogenous,chronic,BCR-ABL positive%Cytogenetics%Molecular biology
    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x2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(x2=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突变和与急性白血病相关的融合基因检测,仅1例MDS/MPN-U JAK2基因V617F突变为阳性,其余患者所检测基因项目均阴性.结论 MDS/MPNs多以面黄、乏力,轻至中度贫血,外周血WBC升高,单核细胞比值增高,可见低比例原始和幼稚细胞以及骨髓病态造血为主要特点.JMML患者较其他亚型有更明显的临床症状和实验室指标异常.易见免疫表型和染色体核型异常,没有特异的分子遗传学标志.
    목적 분석골수증생이상/골수증식성종류(MDS/MPNs)불동아형림상화생물학특정적차이.방법 장2002년8월지2010년8월우산동대학부속성립의원진단적53례MDS/MPNs환자안2001년WHO분류표준분위4개조,기중만성립-단핵세포백혈병(CMML)조24례、불전형만성수계백혈병(aCML)조13례、유년형립-단핵세포백혈병(JMML)조12례、MDS/MPN불능분류(MDS/MPN-U)조4례.분석각아형림상수발증상、혈상규삼수、외주혈급골수세포형태학、면역학이급세포유전학、분자유전학특정.부합정태분포적계량자료용-x±s표시,다조양본균수비교채용단인소방차분석,량량비교채용q검험.계수자료용백분솔표시,용x2검험진행비교,소양본량계수자료용Fisher정학검험.결과 (1)수발증상:53례MDS/MPNs중46례(86.8％)환자면황、핍력；33례(62.3％)환자비종대.JMML조발열화림파결종대적빈솔최고(75.0％,75.0％),여CMML조(12.5％,12.5％)차이유통계학의의(x2=14.89、17.98,P＜0.05).(2)혈상규:Hb (83.1±24.6) g/L;WBC( 19.8 ±8.1)×109/L; PLT( 158.7±108.2)× 109/L.(3)외주혈세포분류:MDS/MPNs외주혈단핵세포비치증고,가견원시세포화다소불등적유치립세포.JMML조、CMML조단핵세포절대치고(4.25±0.76、3.62 ±0.76),여aCML조(0.60±0.06)차이유통계학의의(q =40.7、23.8,P균＜0.05).(4)외주혈급골수세포형태학:JMML조단핵계병태조혈발생솔고체100％.(5)면역학:15례행류식세포술면역학분석,13례(86.7％) MDS/MPNs원시세포화수계세포면역학표형이상.(6)53례MDS/MPNs중29례분석세포유전학,유12례(41.4％)염색체핵형이상,몰유Ph염색체,+8화루급7호염색체이상적궤솔교고.(7)23례주BCR/ABL1、JAK2기인V617F돌변화여급성백혈병상관적융합기인검측,부1례MDS/MPN-U JAK2기인V617F돌변위양성,기여환자소검측기인항목균음성.결론 MDS/MPNs다이면황、핍력,경지중도빈혈,외주혈WBC승고,단핵세포비치증고,가견저비례원시화유치세포이급골수병태조혈위주요특점.JMML환자교기타아형유경명현적림상증상화실험실지표이상.역견면역표형화염색체핵형이상,몰유특이적분자유전학표지.
    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％ ) (x2 =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) x 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 translocations were all negative,+ 8 and 7-involved- karyotypes were more frequent.(7)23 cases were detected molecular genetic features,in which were all negative.BCR/ABL1 and JAK2 V617F mutation were all negative in the 13 cases of aCML.JAK2 V617F mutation was positive in 1 case of MDS/MPN-U.Conclusions Most MDS/MPNs had paleness and fatigue,light to mild anemia,cytosis,monocytes low grade of blast and immature neutrophils in peripheral blood with dysplasia in bone marrow.JMML seems has more severe clinical features and more distinguishing laboratory characters.Immunological abnormalities and abnormal karyotypes are found frequently in MDS/MPNs with no statistical differences among the four subtypes.There is no specific molecular abnormals in MDS/MPNs.( Chin J Lab Med,2012,35:832-837)
    원문보기 원문다운로드 사이트로이동
저자의 최근 논문