急性髓细胞性白血病(acu te myel o id leukemia,AML)的骨髓或外周血原始细胞一般需≥20%,但是伴t(8;21)(q22;q22.1);RUNX1-RUNX1T1(AML1-ETO)、inv(16)(p13.1q22)或t(16;16)(p13.1;q22);CBFB-MYH11和PML-RARA的AML,原始细胞比例可以低...急性髓细胞性白血病(acu te myel o id leukemia,AML)的骨髓或外周血原始细胞一般需≥20%,但是伴t(8;21)(q22;q22.1);RUNX1-RUNX1T1(AML1-ETO)、inv(16)(p13.1q22)或t(16;16)(p13.1;q22);CBFB-MYH11和PML-RARA的AML,原始细胞比例可以低于20%,但临床上少见。本研究报道1例原始细胞<20%伴RUNX1-RUNX1T1(AML1-ETO)阳性的AML病例。展开更多
Granulocytic sarcoma is a form of acute myeloid leukemia which may occur in any anatomical site. Isolated pancreatic granulocytic sarcoma is however, extremely rare. Translocation t(8;21) is the most common cytogeneti...Granulocytic sarcoma is a form of acute myeloid leukemia which may occur in any anatomical site. Isolated pancreatic granulocytic sarcoma is however, extremely rare. Translocation t(8;21) is the most common cytogenetic abnormality found in leukemia patients with granulocytic sarcoma and is associated with a relatively good prognosis when treated with chemotherapy. Variants of the t(8;21) are uncommon and account for approximately 3% to 4% of acute myeloid leukemia associated with t(8;21) and are rarely described in acute myeloid leukemia cases associated with granulocytic sarcoma. We report here a patient with acute myeloid leukemia and a novel variant t(8;9;21)(q22;p24;q22) with suspected granulocytic sarcoma in pancreas. A dual-color fluorescence in situ hybridization analysis with RUNX1T1 and RUNX1 probes, revealed the presence of an RUNX1/RUNX1T1 fusion signal in this translocation. To the best of our knowledge, a variant of t(8;21) in GS was rarely described and the involvement of the 9q22 region is the first time described here even in isolated AML-M2. We conclude that further accumulation of similar cases is needed and that genetic exploring of variants of t(8;21) may be helpful for a better understanding of molecular pathogenetic mechanism.展开更多
文摘目的探讨RUNX1-RUNX1T1+急性髓细胞白血病(AML)RUNX1-RUNX1T1转录本(融合转录本)的动态变化及其对预后的指导作用。方法回顾性队列研究,纳入2006年10月1日至2015年3月31日在首都医科大学附属北京儿童医院(我院)采用BCH-AML 05方案治疗的全部RUNX1-RUNX1T1+AML患儿,根据初诊(time point 0,TP0)、诱导Ⅰ后(TP1)、诱导Ⅱ后(TP2)、巩固Ⅰ后(TP3)、巩固Ⅱ后(TP4)和巩固Ⅲ后(TP5)融合转录本的检测情况,相应地分为高表达组和低表达组,分组界值分别为每104GUS中融合转录本拷贝数10~4、10~3、10~2、10、1和0,随访至2017年12月31日。采用χ2检验比较初诊高表达组和低表达组临床和生物学特征的差异;Kaplan-Meier法分析患儿5年总生存(OS)和无复发生存(RFS),通过Log-rank检验比较组间差异,以Cox比例风险回归模型分析影响患儿5年OS和RFS的独立预后因素。结果符合本文纳入标准的患儿52例,男27例,中位年龄8(2~14)岁;2例TP1时失访,21例在随访中死亡,其余29例中位随访时间62.2(34.0~134.3)个月。(1)初诊高表达组(17/50)和低表达组(33/50)患儿的年龄、性别、WBC、Hb、PLT计数和骨髓幼稚细胞数、除CD15(P=0.004)外的免疫学表型、TP1~TP5的MRD差异均无统计学意义。(2)单因素分析表明,TP1和TP5融合转录本水平与患儿的5年OS和RFS相关,性别、初诊PLT与5年OS相关,初诊WBC与5年RFS相关。多因素分析显示,TP1时融合转录本水平>103拷贝/104GUS是5年OS的独立不良因素(HR=0.095,95%:CI:0.011~0.860,P=0.036)。结论 RUNX1-RUNX1T1+AML患儿第1次诱导治疗结束后融合转录本水平是患儿长期预后的独立影响因素。
文摘急性髓细胞性白血病(acu te myel o id leukemia,AML)的骨髓或外周血原始细胞一般需≥20%,但是伴t(8;21)(q22;q22.1);RUNX1-RUNX1T1(AML1-ETO)、inv(16)(p13.1q22)或t(16;16)(p13.1;q22);CBFB-MYH11和PML-RARA的AML,原始细胞比例可以低于20%,但临床上少见。本研究报道1例原始细胞<20%伴RUNX1-RUNX1T1(AML1-ETO)阳性的AML病例。
文摘Granulocytic sarcoma is a form of acute myeloid leukemia which may occur in any anatomical site. Isolated pancreatic granulocytic sarcoma is however, extremely rare. Translocation t(8;21) is the most common cytogenetic abnormality found in leukemia patients with granulocytic sarcoma and is associated with a relatively good prognosis when treated with chemotherapy. Variants of the t(8;21) are uncommon and account for approximately 3% to 4% of acute myeloid leukemia associated with t(8;21) and are rarely described in acute myeloid leukemia cases associated with granulocytic sarcoma. We report here a patient with acute myeloid leukemia and a novel variant t(8;9;21)(q22;p24;q22) with suspected granulocytic sarcoma in pancreas. A dual-color fluorescence in situ hybridization analysis with RUNX1T1 and RUNX1 probes, revealed the presence of an RUNX1/RUNX1T1 fusion signal in this translocation. To the best of our knowledge, a variant of t(8;21) in GS was rarely described and the involvement of the 9q22 region is the first time described here even in isolated AML-M2. We conclude that further accumulation of similar cases is needed and that genetic exploring of variants of t(8;21) may be helpful for a better understanding of molecular pathogenetic mechanism.
