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本研究总结分析t(8;21)复杂变异易位急性髓系白血病(AML)的形态学、免疫学、遗传学、分子生物学(MICM)分型,酪氨酸激酶相关基因突变和临床特点。对我院收治的20例初诊t(8;21)复杂变异易位AML进行了总结分析和随访,了解临床一般情况、形态学、免疫分型、染色体核型及治疗、生存情况,分析这一类疾病的基本特征。采用基因组DNA聚合酶链反应后桑格测序,对13例患者进行了酪氨酸激酶相关基因突变(C-KIT、FLT3-ITD、FLT3-TKD、JAK2V617F)的检测。结果表明:①本组20例t(8;21)复杂变异易位AML占同期t(8;21)AML的2.4%,其中M1 1例、M2 17例、M4 2例。13例行流式细胞术检测分析发现,10例为髓系表达,3例为髓系伴淋系表达。细胞遗传学检测显示额外受累的染色体断裂位点有16种:(lp22、1p32、2q35、2q14、3p25、5q13、6p22、7q21、llq11、1lql3、12q14、12q24、12p12、14q32、15p13、20q12)。②13例患者中4例检测出C-KIT基因突变,且均为17号外显子突变,1例检测出JAK2V617F基因突变,13例均未检测出FLT3基因突变。突变组患者经1个疗程诱导化疗后仅1例获得完全缓解(CR),CR率为20%,中位无复发生存时间(RFS)为6.5个月,中位总生存期(OS)为8.9个月;未突变组患者经1个疗程诱导化疗后6例获得CR,CR率为75%,中位RFS为26.6个月,中位OS为27.7个月。结论:t(8;21)复杂变异易位AML与典型t(8;21)AML的临床和实验室特点是相似的,但酪氨酸激酶相关基因突变的存在对患者的诱导化疗缓解率和长期生存具有重要的影响。
This study summarizes the morphology, immunology, genetics, molecular biology (MICM) typing, tyrosine kinase related gene mutations and clinical features of t (8; 21) complex variant translocations of acute myeloid leukemia . A total of 20 newly diagnosed AML patients with t (8; 21) translocation in our hospital were analyzed and followed up to understand the clinical situation, morphology, immunophenotyping, chromosome karyotype, treatment and survival, and to analyze this The basic characteristics of diseases. Thirteen patients were genotyped by polymerase chain reaction followed by sequencing by Sanger. Mutations of tyrosine kinase related genes (FLT3-ITD, FLT3-ITD, FLT3-TKD, JAK2V617F) were detected in 13 patients. The results showed that: ①20 cases of t (8; 21) complicated translocation AML accounted for 2.4% of t (8; 21) AML in the same period, including M1 1 case, M2 17 cases and M4 2 cases. 13 cases by flow cytometry analysis found that 10 cases of myeloid expression, 3 cases of myeloid lymph node expression. Cytogenetic tests revealed 16 additional types of chromosomal cleavage sites involved: (lp22, lp32, 2q35, 2q14, 3p25, 5q13, 6p22, 7q21, llq11, lqlql3, 12q14, 12q24, 12p12, 14q32, 15p13, 20q12). ② The C-KIT gene mutation was detected in 4 of 13 patients, both of which were exon 17, one was detected JAK2V617F gene mutation, and 13 cases were not detected FLT3 gene mutation. Only 1 patient achieved complete remission (CR) after a course of induction chemotherapy in the mutation group, with a CR rate of 20%. The median time to recurrence (RFS) was 6.5 months and the median overall survival (OS) was 8.9 Months. In the unmutated group, CR was achieved in 6 of 6 patients after one course of chemotherapy. The CR rate was 75%. The median RFS was 26.6 months. The median OS was 27.7 months. CONCLUSION: The clinical and laboratory features of A (8; 21) AML complex translocation are similar to those of a typical t (8; 21) AML. However, the presence of tyrosine kinase-related gene mutations in patients with induction of chemotherapy remission rate and Long-term survival has an important impact.