【摘要】 目的　分析伴 del(2 0 q)的骨髓增生异常综合征 (myelodysplastic syndrome,MDS)患者的细胞遗传学和临床特征。方法　对 2 9例伴 del(2 0 q) MDS的细胞遗传学改变、临床表现、实验室检查特点及病程转归进行总结分析。结果　 (1) 2 9例 del(2 0 q)的 MDS中 ,11例 (37.9% )混合正常核型 ,难治性贫血 (re-fractory anemia,RA) /伴环形铁粒幼细胞增多的难治性贫血 (RA with ringed sideroblasts,RAS)组有 9例 ,而原始细胞增多的 RA(RA with excess blasts,RAEB) /转变中的 RAEB(RAEB in transformation,RAEB- T)组 2例 ;RA/ RAS组中缺失以 del(2 0 q) (q11)多见 (6 3.2 % ) ,而 RAEB/ RAEB- T组中以 del(2 0 q)(q12 )多见 (70 .0 % ) ;RA/ RAS组的附加核型改变和复杂核型改变发生率为 2 6 .3%、5 .3% ,均低于 RAEB/RAEB- T组的 5 0 .0 %和 30 .0 % ;(2 )伴 del(2 0 q)的 MDS多表现为两系或 3系血细胞减少 ,几乎全部患者有红系和粒系病态造血 ,而 5 8.6 %的患者有巨核细胞病态造血 ,13例 (44 .8% )患者为两系病态造血 ,14例 (48.3% )患者为 3系病态造血 ,另 2例为单纯红系病态造血 ;6 2 .5 %患者的有核红细胞糖原染色阳性和中性粒细胞碱性磷酸酶积分减低 ;81.8%患者有淋巴细胞的免疫学标记表达 ;(3) 2例患者?更多还原

【Abstract】 Objective To analyze the clinical and cytogenetic features of myelodysplastic syndrome(MDS) associated with del(20q). Methods The cytogenetic profiles, clinical manifestations, laboratory data, and transformation in course of disease were analyzed. Results (1) Of 29 MDS patients with del(20q),eleven (37.9%) had normal karyotype in addition to del(20q) aberration. Among them, nine patients were categorized into refractory anemia(RA)/RA with ringed sideroblasts(RAS) group and two into RA with excess Hasts(RAEB)/RAEB in tranformation(RAEB-T) group. The breakpoint in 20q11 was commonly seen in patients with RA/RAS(63.2%), while del(20q12) was predominant in patients with RAEB/RAEB-T(accounting for 70% in all RAEB/RAEB-T patients). It was observed that RAEB/RAEB-T patients had higher frequencies of extra chromosomal aberrations(50%) and complex karyotype(30%) than did the RA/RAS patients (26.3%,5.3% respectively); (2) Almost all patients revealed prominent pancytopenia, dyserythropoiesis and dysgranulopoiesis and 58.6% patients showed dysmegakaryopoiesis; positive periodic acid schiff staining of nucleated erythrocytes or reduction of neutrophils were found in 62.5% of patients; 81.8% of patients expressed lymphoid antigens; (3) Two cases transformed to acute myeloid leukemia. Conclusion Del(20q) may be an early and primary cytogenetic event in the development of hematologic malignancies. Pancytopenia and dysplasia of bone marrow cells are prominent in patients with MDS associated with del(20q); lymphoid antigen expression is a common occurrence; more additional chromosomal abnormalities and complex karyotypes appear when the disease becomes worse.更多还原