摘要
目的了解伴20号染色体长臂缺失[del(20q)]的骨髓增生异常综合征患者的临床和实验室特征。方法对14例伴del(20q)的MDS患者的临床表现、实验室检查、预后及疗效资料进行回顾性分析。结果本组外周血一系减少1例、两系减少5例、三系减少8例。骨髓发育异常细胞平均值:原始细胞数4%(0-19%),粒系13%(1-35%),红系23%(5-42%),巨核系16%(0-60%)。PAS红系阳性4例。IPSS积分处于低危2例(14%),中危Ⅰ11例(79%),中危Ⅱ1例(7%)。预后情况,完全缓解8例(57%),部分缓解3例(21%),未缓解2例(14%),疾病进展为急性髓系白血病M2a1例(7%)。中位生存期33个月。WHO分型情况,难治性贫血(RA)5例(36%)。结论伴del(20q)的MDS发病年龄较轻,多以贫血,白细胞、血小板减少为主要表现。具有病态造血程度轻,大多处于中低危组,缓解率高,生存期长,转白率低的特点。del(20q)代表了MDS的一个非常早期阶段。
Objective To investigate the hematological and clinical characteristics of myelodysplastic syndrome（MDS） associated with deletion of the long arm of chromosome 20[del（20q）].Methods The Clinical manifestations,laboratory features,prognosis and the response to treatment of 14 MDS patients associated with del（20q） were analyzed retrospectively.Results Examination of peripheral blood：1 case of 14 shows refractory cytopenia,5 cases show bicytopenia and 8 cases show pangytopenia.The Bone marrow biopsy smear：the median values of the dyshemotopoieis in myeloblasts is 4%（0-19%）,dyserythropoiesis is 13%（1-35%）,dysgranulomonopoiesis is 23%（5-42%） and dysmegakaryocytopoiesis is 16%（0-60%）.The periodic acid-Schiff（PAS） stain show positivity for immature erythrocyte in 4 cases of 14.According to international prognostic scoring system（IPSS）,there are 2 patients in Low risk,11 ones in moderate riskⅠ,only one in moderate riskⅡ.Prognosis,8 cases（57%） achieved a complete remission（CR）,2 cases（14%） achieve a partial remission（PR）,2 cases（14%） are not remission and 1 case（7%） show progression to acute myeloid leukaemia M2a.The median survival duration in patients were 33 months.The distribution of WHO-classification：there were 5 cases of MDS-RA.Conclusion The age of patients is younger.anemia,neutropenia and thorombocytopenia as the main performances.The dyshaematopoiesis showed mildly,and most patients in low and moderate risk groups.It has a good remission rate and prognosis,with a lower risk of transforming to leukemia.del（20q） represent a very early stage of MDS.
出处
《中国实验诊断学》
北大核心
2011年第10期1716-1718,共3页
Chinese Journal of Laboratory Diagnosis
