摘要
目的 探讨 8号染色体三体 (8三体 )在血液病尤其是髓系疾病发生、发展中的作用及其预后价值。方法 应用 8号染色体着丝粒探针对 38例染色体核型为 8三体的患者进行荧光原位杂交(fluoresence in situ hybridization,FISH)检测。结果 38例患者中 32例为髓系疾病 (骨髓增生异常综合征、急性髓细胞白血病、慢性髓细胞白血病等 ) ,占 84 .2 % ,17例单纯的中 8三体患者中 14例为髓系疾病(骨髓增生异常综合征、急性单核细胞白血病等 ) (82 .4 % ) ;髓系疾病 8三体的发生率高于淋系疾病 (5 %比1.3% ) ,而 8三体在急性单核细胞白血病中的发生率明显高于其它急性髓细胞白血病 (6 .1%比 2 .4 % ) ,在慢性粒 -单核细胞白血病中的发生率亦高于其它骨髓增生异常综合征患者 (2 5 %比 13.2 % ) ;17例患者核型为单纯 8三体 ,其它 2 1例同时伴其它异常 ,主要有 t(9;2 2 )、+2 2、t(15 ;17)、+9、+11、i(17q)、+19、+2 1、+12、5 q-、- 15、1q-等 ;FISH检测 10例单纯 8三体患者 ,结果均为阳性 ;10例化疗的急性白血病 ,7例获得缓解 (急性早幼粒细胞白血病 3例 ,急性粒细胞白血病部分分化型、急性单核细胞白血病、急性淋巴细胞白血病大细胞为主型及急性混合细胞白血病各 1例 ) ,3例未获缓解 (急性粒细胞白血病部分分化型?
Objective To study the role of trisomy 8 in pathogenesis and progression of hematologic disease with trisomy 8.Methods The clinical data on 38 cases with trisomy 8 were investigated retrospectively. Fluoresence in situ hybridization(FISH) using Spectrum Orange labeled chromosome 8 centromere specific probe was carried out to detect trisomy 8 in 10 cases.Results Thirty-two of 38(84.2%) cases with trisomy 8, and fourteen of 17(82.4%) cases with trisomy 8 as the sole chromosome aberration were myeloid disorders such as myelodysplastic syndrome(MDS), acute myelocytic leukemia(AML), chronic myelocytic leukemia(CML). The incidence of trisomy 8 was higher in myeloid disease than in lymphocytic disease(5% vs 1.3%); the incidence of trisomy 8 was higher in acute monocytic leukemia than in other AML(6.1% vs 2.4%), and the incidence of trisomy 8 in chronic myelomonocytic leukemia(CMML) was higher than that in other myelodysplastic syndrome (MDS) (25% vs 13.2%); 17 cases had trisomy 8 as the sole chromosome aberration, 21 cases had other additional chromosome aberrations. The chromosome aberration was confirmed by FISH in 10 cases with trisomy 8 as the sole chromosome aberration. Eleven cases were treated with chemotherapy, among them only 10 cases data were available. Seven cases acquired complete remission but 3 of them were M3, the other 3 cases had no response after two courses of chemotherapy.Conclusion Trisomy 8 may play an important role in the pathogenesis and progression of the hematologicl disease, especially myeloid disease. Trisomy 8 might be related with differentiation abnormality of monocyte.
出处
《中华医学遗传学杂志》
CAS
CSCD
2003年第6期528-531,共4页
Chinese Journal of Medical Genetics
基金
国家 8 63项目 (2 0 0 1 AA2 2 70 71 )
浙江省科学技术厅重点项目 (2 0 0 3C2 2 30 1 3)~~
