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首页> 外文期刊>Sao Paulo Medical Journal >Analysis of p16 gene mutations and deletions in childhood acute lymphoblastic leukemias
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Analysis of p16 gene mutations and deletions in childhood acute lymphoblastic leukemias

机译：儿童急性淋巴细胞白血病p16基因突变与缺失分析

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CONTEXT: The p16 tumor suppressor gene encodes a cyclin-dependent kinase 4 inhibitor that blocks cell division during the G1 phase of the cell cycle. Alterations in this gene have been reported for various neoplasia types, including acute lymphoblastic leukemias (ALL), especially T-cell acute lymphoblastic leukemias (ALL). OBJECTIVE: To determine probable alterations in the p16 gene in children with acute lymphoblastic leukemias using the polymerase chain reaction (PCR) and direct DNA sequencing and also to analyze event-free survival (EFS). DESIGN: Retrospective study. SETTING: Department of Child Care and Pediatrics, Faculty of Medicine of Ribeir?o Preto, Universidade Federal de S?o Paulo. PARTICIPANTS: Fifty-six children with ALL (mean age 4 years). Forty (71.43%) had B-cell and 12 (21.43%) had T-cell ALL; 4 (7.1%) were biphenotypic. SAMPLE: DNA samples were extracted from bone marrow upon diagnosis and/or relapse. In 2 T-cell cases, DNA from cerebrospinal fluid (CSF) was analyzed. MAIN MEASUREMENTS: Deletions or nucleotide substitutions in exons 1, 2 and 3 of the p16 gene were determined by PCR and nucleotide sequencing. Event-free survival was determined by the Kaplan-Meyer and log-rank test for patients carrying normal and altered p16. RESULTS: Deletions in exon 3 were observed in five cases. Abnormal migration in PCR was observed in seven cases for exon 1, six for exon 2, and five for exon 3. Mutations in exon 1 were confirmed by direct DNA sequencing in four cases and in exon 2 in two cases. The Kaplan-Meyer survival curves and the log-rank test showed no significant differences in 5-year EFS between children with normal or altered p16, or between patients with B-ALL carrying normal or altered p16 gene. Patients with T-ALL could not be evaluated via Kaplan-Meier due to the small number of cases. CONCLUSIONS: Our results, particularly regarding deletion frequency, agree with others suggesting that deletions in the p16 are initial events in leukemia genesis. The small number of samples did not allow stablishment of correlation between childhood ALL and the p16 point mutations found in our study. Kaplan-Meier analysis revealed no significant correlation between EFS and alterations in ALL. The p16 alterations frequency observed for B and T-ALL agreed with reports from other centers.
机译：背景：p16抑癌基因编码一种细胞周期蛋白依赖性激酶4抑制剂，该抑制剂在细胞周期的G1期阻止细胞分裂。已经报道了针对各种瘤形成类型的该基因的改变，包括急性淋巴细胞白血病（ALL），特别是T细胞急性淋巴细胞白血病（ALL）。目的：使用聚合酶链反应（PCR）和直接DNA测序技术确定急性淋巴细胞白血病患儿p16基因的可能改变，并分析无事件生存率（EFS）。设计：回顾性研究。地点：圣保罗联邦大学里贝里奥·普雷托医学院儿童与儿科系。参加者：56名ALL患儿（平均年龄4岁）。 40例（71.43％）患有B细胞，而12例（21.43％）患有T细胞ALL; 4（7.1％）是双表型。样品：诊断和/或复发时从骨髓中提取DNA样品。在2例T细胞病例中，分析了来自脑脊液（CSF）的DNA。主要测量：通过PCR和核苷酸测序确定p16基因外显子1、2和3中的缺失或核苷酸取代。通过Kaplan-Meyer和log-rank检验确定携带正常和改变的p16的患者的无事件生存期。结果：5例观察到外显子3缺失。在外显子1的7例中观察到PCR异常迁移，外显子2的6例，外显子3的5例。通过直接DNA测序证实外显子1的突变4例，在外显子2的突变2例。 Kaplan-Meyer生存曲线和对数秩检验表明，p16正常或改变的儿童或携带p16基因正常或改变的B-ALL患者之间的5年EFS没有显着差异。由于病例数少，无法通过Kaplan-Meier评估T-ALL患者。结论：我们的研究结果，特别是关于缺失频率，与其他人一致，这表明p16的缺失是白血病发生的初始事件。少量样品无法确定儿童ALL与我们研究中发现的p16点突变之间的相关性。 Kaplan-Meier分析显示EFS与ALL改变之间无显着相关性。 B和T-ALL观测到的p16改变频率与其他中心的报告一致。

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