急性红白血病伴复杂染色体核型2例报告及文献分析

Diagnosis and Treatment of Acute Erythroleukemia with Karyotypic Abnormalities:Report of Two Cases and Review of the Literature

目的:分析2例急性红白血病伴复杂染色体核型的患者的临床特点。方法:收集2例急性红白血病患者的临床资料,分析其骨髓细胞彩色图像及骨髓病理、免疫分型、染色体检查结果。结果:2例患者均以全血细胞减少就诊,并根据骨髓细胞彩色图像及骨髓病理、免疫分型、染色体检查结果明确诊断为急性红白血病。病例1的染色体:47,XY,+1,del(6)(q21),add(7)(p15),add(20)(q12)。病例2的染色体:62～65,XY,+1,+2,+2,+3,+3,+4,+6,+8,+10,+11,der(11)t(1;11)(q21;p15),+14,+15,+16,+17,+18,+18,+19,+20,+20,+21,+21,+22,+mar1。病例1给予DA、CAG、HHT方案化疗,均未缓解,3个月病死。病例2给予DA、CAG方案化疗,未缓解,2个月后家属要求出院,患者在家中病死。结论:急性红白血病患者的预后与其染色体核型密切相关,患者对化疗反应差,耐药率、死亡率高,预后极差,年轻的患者应尽早行骨髓移植。

Objective：To analyze the characteristics of two cases of acute erythroleukemia（AEL） with complex karyotypic abnormalities.Methods：The clinical datum of two AEL cases were collected,and the process of diagnosis and treatment was analyzed to investigate the characteristics of AEL.Results： The two cases were admitted because of pancytopenia,and they were clearly diagnosed as AEL by bone marrow images,biopsy,immunoassay and chromosome abnormalities.The result of chromosome in case 1 was 47,XY,＋1,del（6）（q21）,add（7）（p15）,add（20）（q12）.Chromosome in case 2 was 62~65,XY,＋1,＋2,＋2,＋3,＋3,＋4,＋6,＋8,＋10,＋11,der（11）t（1;11）（q21;p15）,＋14,＋15,＋16,＋17,＋18,＋18,＋19,＋20,＋20,＋21,＋21,＋22,＋mar1.Case 1 was treated with DA,CAG,HHT chemotherapy,but no remission was observed and he died after three months.Case 2 was treated with DA,CAG chemotherapy,but no remission was observed and he died after two months.Conclusions： The progonosis of AEL is related to the aberrant karyotypes,and patients usually resist to chemotherapy with high mortality and poor prognosis.Young patients should be treated with allogeneic hematopoietic stem cell transplantation as soon as possible.