14例伴del(20q)的骨髓增生异常综合征血液学和临床特征的分析

摘要

Objective To investigate the hematological and clinical characteristics of myelodysplastic syndroe(MDS) associated with deletion of the long arm of chrom osome 20 [del(20q) ] .Methods The Clinical manifestations,laboratory features,prognosis and the response to treatment of l4 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 pangoytopenia .The Bone marrow biopsy smear:themedian values of the dyshemotopoieis in myeloblasts is ％4％ (0-19％ ) ,dyserythropoiesis is 13％ (1-35％ ),dysgranu lom onopoiesis is 23％ (5-42％ ) and dysm egakaryocytopoiesis is 16％ (0-60％ ) .The peridic acid-Schiff(PAS) stain show positivity for immature erythrocyte in 4 cases of 14 .According to intemational prognostic scoring system (IPSS), there ate 2 patients in Lowrisk ,11 ones in moderate risk Ⅰ ,only one in moderate risk Ⅱ .Prognosis,8 cases (57％) achieved a complete rem ission (CR) ,2 cases(1 ％4％ ) achieve a partial rem ission (PR) ,2 cases(14％ ) are not rem ission and 1 case (7％) show progression to acute myeloid leukaem ia M2a.The median survival duration in patients were 33 months.The distribution of WHO-classification: there were 5 cases of UDS-RA .Conclusion The age of patients is younger. anem ia,neutropenia and thorom bocytopenia as the main perform ances.The dyshaem atopoiesis showed mildly ,and most patients in low and moderate riksk groups.It has a good rem ission rate and prognosis,with a lower risk of transforming to leukem ia.del (20q) represent a very early stage of MDS.%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.