Wang Xiao-Qin
Hematology Department, Huashan Hospital, Fudan University, Shanghai 200040, China.
Zhonghua Nei Ke Za Zhi. 2008 Jun;47(6):464-7.
To investigate the WHO classification and cytogenetic characteristics of primary myelodysplastic syndrome (MDS) in adults of Shanghai area and then compare them with those of western countries.
The consecutive samples of 435 patients with MDS in Sino-US Shanghai Leukemia Cooperative Group were collected prospectively and diagnosed with WHO classification. Cytogenetic analysis was performed using chromosome G-banding and fluorescence in situ hybridization (FISH) techniques.
The median onset age in the patients was 58 (18-90) years. The proportion of cases with refractory cytopenia with multilineage dysplasia (RCMD) was highest ,accounting for 69.6% (303/435). Other subtypes were refractory anemia with excess blasts (RAEB) 24.1% (105/435), refractory anemia (RA) 2.3% (10/435), myelodysplastic syndrome, unclassifiable (MDS-U) 2.3% (10/435), refractory anemia with ringed sideroblasts (RAS) 1.2% (5/435) and 5q-syndrome 0.5% (2/435) in turn. The proportions of RA, RAS and 5q-syndrome were higher in western countries and RCMD subtype was lower. Eleven cases had failure of chromosome analysis. In the remaining 424 cases with success the frequency of chromosome abnormality was 38.7%, with the highest in RAEB- I (62.5%), and then RAEB-II (48.4%) and RCMD (34.5%) in turn. The sequence of common chromosome abnormalities was + 8 (12.7% ), complex karyotype (9.0%), chromosome translocation (7.8%), - 20q (6.6%), -7/-7q (5.2%), -5/-5q (4.2%) and- Y(2.4%), while the sequential order in western countries -5/-5q, -7/-7q, +8, 11q and 12p/12q. Chromosome prognosis was grouped according to International Prognosis Scoring System (IPSS), 289 cases were in the group with good chromosome prognosis (68.2%), 81 cases in group with medium prognosis (19.1%) and 54 cases in group with poor prognosis (12.7%). Seventeen patients had normal chromosome examination because of lower percentage of abnormal cells. However, the detection sensitivity of abnormality with FISH may sometimes be high.
The WHO subtype and chromosome abnormality distributions of MDS in Shanghai were different from those in western countries. The combination of FISH and conventional chromosome examination could improve the detection sensitivity.
探讨上海地区成人原发性骨髓增生异常综合征(MDS)的世界卫生组织(WHO)分类及细胞遗传学特征,并与西方国家进行比较。
前瞻性收集中美上海白血病协作组435例MDS患者的连续样本,按WHO分类进行诊断。采用染色体G显带和荧光原位杂交(FISH)技术进行细胞遗传学分析。
患者中位发病年龄为58(18 - 90)岁。多系发育异常的难治性血细胞减少症(RCMD)病例比例最高,占69.6%(303/435)。其他亚型依次为难治性贫血伴原始细胞增多(RAEB)24.1%(105/435)、难治性贫血(RA)2.3%(10/435)、无法分类的骨髓增生异常综合征(MDS-U)2.3%(10/435)、环形铁粒幼细胞性难治性贫血(RAS)1.2%(5/435)和5q综合征0.5%(2/435)。西方国家RA、RAS和5q综合征的比例较高,RCMD亚型较低。11例染色体分析失败。在其余424例成功分析的病例中,染色体异常频率为38.7%,其中RAEB-I最高(62.5%),其次依次为RAEB-II(48.4%)和RCMD(34.5%)。常见染色体异常顺序为+8(12.7%)、复杂核型(9.0%)、染色体易位(7.8%)、-20q(6.6%)、-7/-7q(5.2%)、-5/-5q(4.2%)和-Y(2.4%),而西方国家的顺序为-5/-5q、-7/-7q、+8、11q和12p/12q。根据国际预后评分系统(IPSS)对染色体预后进行分组,289例为染色体预后良好组(68.2%),81例为中等预后组(19.1%),54例为预后不良组(12.7%)。17例患者因异常细胞比例较低染色体检查正常。然而,FISH对异常的检测敏感性有时可能较高。
上海地区MDS的WHO亚型和染色体异常分布与西方国家不同。FISH与传统染色体检查相结合可提高检测敏感性。