Wu Huanling, Bian Shuquan, Chu Jingxue, Zhong Xiaoyan, Sun Hui, Zhang Bingchang, Lu Zhiming
Clinical Laboratory of Provincial Hospital Affiliated to Shandong University, Jinan, Shandong 250021;
Exp Ther Med. 2013 May;5(5):1332-1338. doi: 10.3892/etm.2013.975. Epub 2013 Feb 26.
The aim of the present study was to investigate the characteristics of the four subtypes of myelodysplastic/myeloproliferative neoplasms (MDS/MPNs) in order to improve current knowledge and to aid their diagnosis. A total of 53 cases of MDS/MPNs were analyzed using routine blood cell analysis and morphological, cytogenetic and molecular genetic characteristics were investigated. Numerical data for several groups were compared using a single-factor analysis of variance. The Student-Newman-Keuls test was used to compare the means of two groups. The proportions were compared using a Chi-square test or Fisher's exact test. Analysis of the patients with MDS/MPNs revealed that 46 patients (86.8%) had paleness and fatigue, and blood analysis revealed hemoglobin (Hb) levels of 83.1±24.6 g/l, a white blood cell (WBC) count of 19.8±8.1×10/l and a platelet (PLT) count of 158.7±108.2×10/l. Immature neutrophils and monocytes were identified in the peripheral blood at levels of 0.058±0.031 and 0.152±0.034%, respectively. There were 23 cases (43.4%) with dyserythropoiesis and 36 cases (67.9%) had dysgranulopoiesis. Fifteen cases were immunologically characterized using flow cytometry (FCM), of which 13 cases showed abnormalities on blasts and myelocytes. Karyotyping was performed in 27 cases of MDS/MPN and 12 (44.4%) were identified as abnormal. In 23 cases, testing for BCR/ABL1, AML-ETO, CBF-MYH11A, PML-RARA, E2A-PBX1, TEL-AML1, SIL-TAL1 returned negative results. The JAK2V617F mutation was positive in one of five cases. The majority of MDS/MPN cases had anemia, cytosis, low-grade blasts and immature neutrophils in the peripheral blood and dysplasia in the bone marrow. Immunological abnormalities and abnormal karyotypes occurred frequently in MDS/MPNs and although there were no statistical differences between the four subtypes, these were able to aid diagnosis. No specific molecular abnormalities were identified in MDS/MPNs.
本研究的目的是调查骨髓增生异常/骨髓增殖性肿瘤(MDS/MPN)四种亚型的特征,以增进当前的认识并辅助其诊断。使用常规血细胞分析对总共53例MDS/MPN病例进行了分析,并研究了形态学、细胞遗传学和分子遗传学特征。几组的数值数据使用单因素方差分析进行比较。采用Student-Newman-Keuls检验比较两组的均值。比例采用卡方检验或Fisher精确检验进行比较。对MDS/MPN患者的分析显示,46例患者(86.8%)有面色苍白和疲劳症状,血液分析显示血红蛋白(Hb)水平为83.1±24.6 g/l,白细胞(WBC)计数为19.8±8.1×10⁹/l,血小板(PLT)计数为158.7±108.2×10⁹/l。外周血中未成熟中性粒细胞和单核细胞的水平分别为0.058±0.031%和0.152±0.034%。有23例(43.4%)存在红系造血异常,36例(67.9%)有粒系造血异常。15例采用流式细胞术(FCM)进行免疫表型分析,其中13例在原始细胞和髓细胞上显示异常。对27例MDS/MPN病例进行了核型分析,12例(44.4%)被鉴定为异常。在23例中,BCR/ABL1、AML-ETO、CBF-MYH11A、PML-RARA、E2A-PBX1、TEL-AML1、SIL-TAL1检测结果均为阴性。JAK2V617F突变在5例中有1例呈阳性。大多数MDS/MPN病例有贫血、血细胞增多、外周血低级别原始细胞和未成熟中性粒细胞以及骨髓发育异常。免疫异常和异常核型在MDS/MPN中频繁出现,虽然四种亚型之间无统计学差异,但这些有助于诊断。在MDS/MPN中未发现特定的分子异常。