Objective: To explore the clinical characteristics and therapeutic efficacy of patient with adult acute lymphoblastic leukemia(ALL).
Methods: Seventy-seven ALL patients diagnosed in the first affiliated hospital of Zhengzhou University from 2018 to 2019 were selected. The immunotyping, fusion gene and gene mutation were detected by flow cytometry, real-time quantitative polymerase chain reaction (RT-PCR) and next generation sequencing (NGS).
Results: Among 77 patients with ALL, 66 were B-ALL, 9 were T-ALL. CD7 and cCD3 were the most valuable for the diagnosis of T-ALL, CD19 and cCD79a were the most valuable for the diagnosis of B-ALL, and CD58, CD123 were highly expressed in B-ALL. Three fusion genes: BCR-ABL (20.8%), MLL-AF4 (5.19%) and E2A-PBX1 (2.60%) were detected by RT-PCR and 10 mutant genes were detected by NGS (the total detection rate was 33.47%). The highest mutation rates were IL-7R (6 cases), NOTCH1 (6 cases), TP53 (5 cases) and FLT-3 (4 cases). Patients with IL-7R, NOTCH1 and TP53 mutations showed poor response to induction chemotherapy.
Conclusion: The CD123, IL-7R, NOTCH1 and TP53 may be risk factors for prognosis, however, the increase of case number and prolonging of follow-up time are needed to further confirm.
题目: 成人急性淋巴细胞白血病患者的临床特点与疗效分析.
目的: 结合白血病的免疫分型、融合基因和突变基因探讨初治急性淋巴细胞白血病（ALL）患者的临床特点和治疗反应.
方法: 选择2018-2019年郑州大学第一附属医院确诊的77例成人ALL患者，应用流式细胞术、实时荧光定量PCR技术(RT-PCR)、二代测序技术(NGS)进行免疫学及分子生物学检测.
结果: 77例ALL患者中， B-ALL患者66例，T-ALL患者9例。CD7、cCD3对于T-ALL最具有诊断价值，CD19、cCD79a对于B-ALL最具有诊断价值，另外，B-ALL中高表达CD58、CD123。RT-PCR检测出了BCR-ABL（20.8%）、MLL-AF4（5.19%）、E2A-PBX1（2.60%）3种融合基因， NGS检测出了10种突变基因（总检出率为33.47%），突变率较高的分别为： IL-7R（6例）、NOTCH1（6例）、TP53（5例）、FLT-3（4例）。结果显示，IL-7R、NOTCH1、TP53基因突变的患者对诱导治疗反应差.
结论: CD123、IL-7R、NOTCH1、TP53的存在可能提示预后差，但仍需进一步扩大样本量，长期随访，进一步证实.