目的探讨光谱核型分析（spectral karyotyping，SKY）结合荧光原位杂交（fluorescence in situ hybridization，FISH）及传统核型分析技术在产前诊断标记染色体及复杂染色体畸变中的应用。方法对产前诊断中常规G显带分析发现的5例标记...目的探讨光谱核型分析（spectral karyotyping，SKY）结合荧光原位杂交（fluorescence in situ hybridization，FISH）及传统核型分析技术在产前诊断标记染色体及复杂染色体畸变中的应用。方法对产前诊断中常规G显带分析发现的5例标记染色体以及2例复杂染色体畸变的胎儿样本进行SKY分析，必要时应用FISH技术进一步鉴定或采用C显带、N显带技术进行辅助诊断，并分析胎儿产前超声检查、生后随访或病理解剖结果。结果5例标记染色体的病例中2例为大的标记染色体，3例为中等大小标记染色体；1例胎儿为父源性遗传，4例为新发突变。用SKY分析发现2例为非近端着丝粒来源（分别为4号、9号染色体），2例为近端着丝粒来源（分别来自22号、21号染色体），1例为X染色体来源。3例经FISH检查证实了SKY分析结果。5例标记染色体的胎儿4例终止妊娠，1例父源性遗传者足月分娩，生后随访1年未见异常。2例产前诊断为复杂染色体畸变的胎儿，其中1例经常规G显带分析为不明来源的衍生染色体，SKY诊断为8号染色体自身部分重复；另1例经SKY诊断为2号与6号染色体易位的胎儿足月分娩，随访6个月时有生长发育迟缓。结论应用SKY结合FISH及传统的核型分析可对产前诊断中难以确定来源的标记染色体及复杂染色体畸变作出诊断，结合超声波检查结果，可更好地为临床咨询提供指导。展开更多
In order to compare the effect between haploidentical(HID) stem cell transplantation(HSCT) and matched sibling donor(MSD)stem cell transplantation for high-risk acute myeloid leukemia(AML) in first complete remission ...In order to compare the effect between haploidentical(HID) stem cell transplantation(HSCT) and matched sibling donor(MSD)stem cell transplantation for high-risk acute myeloid leukemia(AML) in first complete remission status(CR1), we retrospectively studied 170 cases who received stem cell transplantation from Jan 2008 to Jul 2015 in Peking University People's Hospital. We divided all cases into MSD group(43 cases) and HID(127 cases) group. Patients in HID and MSD group displayed similar baseline characteristics except for age distribution. There were no statistic differences for overall survival(OS), cumulative incidence of relapse, leukemia free survival(LFS), transplantation related mortality(TRM) between HID and MSD group. The 3-year OS, LFS for all patients was 63.9% and 59.7% respectively. Multivariate analysis showed that grade III-IV acute graft versus host disease(aGVHD) was an independent risk factor for treatment related mortality(HR=8.134, 95% CI:3.210–20.611, P<0.001), monosomy/complex chromosomal karyotype and white blood cell count more than 50×109 L-1 were two independent factors for relapse(HR=1.533, 95% CI: 1.040–2.260, P=0.031)(HR=1.004, 95% CI: 1.001–1.008, P=0.015).Grade III-IV aGVHD was an independent factor for mortality(HR=3.184, 95% CI: 1.718–5.902, P<0.001). These results demonstrated some risk factors for high-risk AML leukemia transplantation and indicated for AML patients in CR1 status, haplo stem cell transplantation could have the same therapeutic effect as MSD transplantation.展开更多
文摘目的探讨光谱核型分析（spectral karyotyping，SKY）结合荧光原位杂交（fluorescence in situ hybridization，FISH）及传统核型分析技术在产前诊断标记染色体及复杂染色体畸变中的应用。方法对产前诊断中常规G显带分析发现的5例标记染色体以及2例复杂染色体畸变的胎儿样本进行SKY分析，必要时应用FISH技术进一步鉴定或采用C显带、N显带技术进行辅助诊断，并分析胎儿产前超声检查、生后随访或病理解剖结果。结果5例标记染色体的病例中2例为大的标记染色体，3例为中等大小标记染色体；1例胎儿为父源性遗传，4例为新发突变。用SKY分析发现2例为非近端着丝粒来源（分别为4号、9号染色体），2例为近端着丝粒来源（分别来自22号、21号染色体），1例为X染色体来源。3例经FISH检查证实了SKY分析结果。5例标记染色体的胎儿4例终止妊娠，1例父源性遗传者足月分娩，生后随访1年未见异常。2例产前诊断为复杂染色体畸变的胎儿，其中1例经常规G显带分析为不明来源的衍生染色体，SKY诊断为8号染色体自身部分重复；另1例经SKY诊断为2号与6号染色体易位的胎儿足月分娩，随访6个月时有生长发育迟缓。结论应用SKY结合FISH及传统的核型分析可对产前诊断中难以确定来源的标记染色体及复杂染色体畸变作出诊断，结合超声波检查结果，可更好地为临床咨询提供指导。
文摘In order to compare the effect between haploidentical(HID) stem cell transplantation(HSCT) and matched sibling donor(MSD)stem cell transplantation for high-risk acute myeloid leukemia(AML) in first complete remission status(CR1), we retrospectively studied 170 cases who received stem cell transplantation from Jan 2008 to Jul 2015 in Peking University People's Hospital. We divided all cases into MSD group(43 cases) and HID(127 cases) group. Patients in HID and MSD group displayed similar baseline characteristics except for age distribution. There were no statistic differences for overall survival(OS), cumulative incidence of relapse, leukemia free survival(LFS), transplantation related mortality(TRM) between HID and MSD group. The 3-year OS, LFS for all patients was 63.9% and 59.7% respectively. Multivariate analysis showed that grade III-IV acute graft versus host disease(aGVHD) was an independent risk factor for treatment related mortality(HR=8.134, 95% CI:3.210–20.611, P<0.001), monosomy/complex chromosomal karyotype and white blood cell count more than 50×109 L-1 were two independent factors for relapse(HR=1.533, 95% CI: 1.040–2.260, P=0.031)(HR=1.004, 95% CI: 1.001–1.008, P=0.015).Grade III-IV aGVHD was an independent factor for mortality(HR=3.184, 95% CI: 1.718–5.902, P<0.001). These results demonstrated some risk factors for high-risk AML leukemia transplantation and indicated for AML patients in CR1 status, haplo stem cell transplantation could have the same therapeutic effect as MSD transplantation.
