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首页> 外文期刊>Sao Paulo Medical Journal >Inactivation of the p15 gene in children with acute lymphoblastic leukemia
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Inactivation of the p15 gene in children with acute lymphoblastic leukemia

机译：儿童急性淋巴细胞白血病中p15基因的失活

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CONTEXT: Tumor suppressor genes act on the control of cell cycle progression. In pediatric neoplasias, some of these genes may be considered to be markers for diagnosis or relapse, thus probably representing prognostic indicators. OBJECTIVE: To study the inactivation of the p15 gene in children with acute lymphoblastic leukemia. TYPE OF STUDY: Retrospective study. SETTING: Laboratory of Molecular Biology, Department of Pediatrics, Faculdade de Medicina de Ribeir?o Preto, Universidade de S?o Paulo. PARTICIPANTS: Eighty-three children and adolescents with acute lymphoblastic leukemia were studied, with the examination of 83 bone marrow samples obtained at diagnosis, four obtained also during relapse, and two cerebrospinal fluid samples obtained from two cases of isolated relapse in the central nervous system. MAIN MEASUREMENTS: Homologous deletion of the p15 gene by multiplex polymerase chain reaction, and screening for point mutations by polymerase chain reaction/single-strand conformational polymorphism. RESULTS: Deletion of exon 2 of the p15 gene was observed in 15 children, including one case in which deletion was only verified during isolated central nervous system relapse. No case of exon 1 deletion, or that was suggestive of point mutations, was observed and no association between p15 gene inactivation and classic risk factors was established. CONCLUSION: According to the literature, inactivation of the p15 gene by deletion of exon 2 in acute lymphoblastic leukemia found in the population studied would be considered to be a molecular marker for diagnosis or relapse. However, no correlation between p15 gene deletion and clinical prognostic indicators was observed.
机译：背景：肿瘤抑制基因作用于细胞周期进程的控制。在小儿赘生物中，其中一些基因可能被认为是诊断或复发的标志物，因此可能代表了预后指标。目的：研究急性淋巴细胞白血病患儿p15基因的失活情况。研究类型：回顾性研究。地点：里约热内卢大学医学院小儿科，分子生物学实验室，圣保罗大学。参与者：研究了八十三名急性淋巴细胞白血病的儿童和青少年，检查了诊断时获得的83份骨髓标本，在复发期间也获得了4份标本，以及从2例中枢神经系统孤立复发中获得的2份脑脊液标本。 。主要测量：通过多重聚合酶链反应同源缺失p15基因，并通过聚合酶链反应/单链构象多态性筛选点突变。结果：在15名儿童中观察到了p15基因外显子2的缺失，其中1例仅在孤立的中枢神经系统复发中得到证实。没有观察到外显子1缺失或提示点突变的病例，并且未建立p15基因失活与经典危险因素之间的关联。结论：根据文献，在研究人群中发现的急性淋巴细胞白血病中外显子2缺失导致p15基因失活被认为是诊断或复发的分子标记。但是，未观察到p15基因缺失与临床预后指标之间的相关性。

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