原位肝移植后发生急性单核细胞白血病: 临床特点和分子遗传学改变及其意义

来源 :中华医学杂志 | 被引量 : 0次 | 上传用户:sesame_1975
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目的观察肝移植后发生急性单核细胞白血病的演变和治疗过程,提高对肝移植后发生急性白血病的认识。方法(1)通过临床观察和常规实验室检查,观察了1例(男,46岁)患者肝移植后发生白血病的演变、诊断和治疗过程;(2)用RT-PCR技术,分析患者骨髓单个核细胞FLT3-ITD基因突变,Pim-1基因和Hsp70基因表达;通过核苷酸测序技术,确定了FLT3-ITD的突变类型;(3)用流式细胞仪分析患者骨髓细胞C-kit和PDGFRα蛋白的表达。结果(1)患者接受原位肝移植后3个月,出现贫血、血小板减少、白细胞增高的血象变化和相应的临床症状;外周血出现增高的原粒细胞/有核红细胞,骨髓原幼单核细胞增多;骨髓细胞染色体分析示8号染色体三体,符合骨髓增生异常综合征——慢性粒单核细胞白血病(CMML)的诊断。肝移植后5个月,患者发生典型的急性单核细胞白血病,用“柔红霉素,阿糖胞苷”及“高三尖杉酯碱,阿糖胞苷”化疗5个疗程获血液学完全缓解和骨髓部分缓解;后因出现白血病细胞高度耐药,野生型FLT3基因消失而死亡。(2)患者骨髓单个核细胞存在FLT3-ITD突变;突变类型为“插入”缺陷;存在Pim-1基因弱表达和Hsp70基因过表达;(3)患者骨髓细胞C-kit和PDGFRα蛋白表达上调。结论肝移植后可并发急性白血病,其临床和血液学表现具有一定程度异质性;可存在与预后不良相关的细胞/分子遗传学改变。 Objective To observe the evolution and treatment of acute monocytic leukemia after liver transplantation and to improve the understanding of acute leukemia after liver transplantation. Methods (1) The evolution, diagnosis and treatment of leukemia after liver transplantation in 1 patient (male, 46 years old) were observed through clinical observation and routine laboratory tests. (2) The FLT3-ITD gene mutation, Pim-1 gene and Hsp70 gene expression were detected by nuclear sequencing. The mutation types of FLT3-ITD were determined by nucleotide sequencing. (3) The expression of C-kit and PDGFRα in bone marrow cells were analyzed by flow cytometry Protein expression. Results (1) There was anemia, thrombocytopenia, leukocytosis and clinical symptoms in patients receiving orthotopic liver transplantation 3 months after transplantation. The exogenous granulocyte / nucleated erythrocytes and peripheral blood mononuclear cells Cells increased; chromosome analysis of bone marrow cells showed chromosome 8 trisomy, in line with myelodysplastic syndrome - chronic myelomonocytic leukemia (CMML) diagnosis. Five months after liver transplantation, patients with typical acute monocytic leukemia, with “daunorubicin, cytarabine” and “homoharringtonine, cytarabine” chemotherapy 5 courses hematology complete Alleviate and bone marrow partial remission; later due to the emergence of highly resistant leukemia cells, the wild-type FLT3 gene died and died. (2) There was FLT3-ITD mutation in the bone marrow mononuclear cells of patients; the mutation type was “insertion” defect; the weak expression of Pim-1 gene and Hsp70 gene overexpression; (3) C-kit and PDGFRα protein expression in bone marrow cells were up-regulated. Conclusions Acute leukemia complicated with acute leukemia after liver transplantation may have some degree of heterogeneity in clinical and hematological manifestations. There may be cellular / molecular genetic changes associated with poor prognosis.
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