首页> 美国卫生研究院文献>Blood >Neoplasia: Molecular allelokaryotyping of pediatric acute lymphoblastic leukemias by high-resolution single nucleotide polymorphism oligonucleotide genomic microarray
【2h】

Neoplasia: Molecular allelokaryotyping of pediatric acute lymphoblastic leukemias by high-resolution single nucleotide polymorphism oligonucleotide genomic microarray

机译:瘤形成:高分辨率单核苷酸多态性寡核苷酸基因组微阵列对儿童急性淋巴细胞白血病的分子化感核型分析

代理获取
本网站仅为用户提供外文OA文献查询和代理获取服务,本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文,但由于OA文献来源多样且变更频繁,仍可能出现获取不到、文献不完整或与标题不符等情况,如果获取不到我们将提供退款服务。请知悉。

摘要

Pediatric acute lymphoblastic leukemia (ALL) is a malignant disease resulting from accumulation of genetic alterations. A robust technology, single nucleotide polymorphism oligonucleotide genomic microarray (SNP-chip) in concert with bioinformatics offers the opportunity to discover the genetic lesions associated with ALL. We examined 399 pediatric ALL samples and their matched remission marrows at 50 000/250 000 SNP sites using an SNP-chip platform. Correlations between genetic abnormalities and clinical features were examined. Three common genetic alterations were found: deletion of ETV6, deletion of p16INK4A, and hyperdiploidy, as well as a number of novel recurrent genetic alterations. Uniparental disomy (UPD) was a frequent event, especially affecting chromosome 9. A cohort of children with hyperdiploid ALL without gain of chromosomes 17 and 18 had a poor prognosis. Molecular allelokaryotyping is a robust tool to define small genetic abnormalities including UPD, which is usually overlooked by standard methods. This technique was able to detect subgroups with a poor prognosis based on their genetic status.
机译:小儿急性淋巴细胞白血病(ALL)是一种由于遗传改变积累而导致的恶性疾病。强大的技术,单核苷酸多态性寡核苷酸基因组微阵列(SNP-chip)与生物信息学相结合,为发现与ALL相关的遗传损伤提供了机会。我们使用SNP芯片平台在50 000/250 000 SNP位点检查了399个儿科ALL样本及其匹配的缓解骨髓。检查了遗传异常与临床特征之间的相关性。发现了三种常见的遗传改变:ETV6的缺失,p16INK4A的缺失和超二倍体,以及许多新的复发性遗传改变。单亲二体性(UPD)是一个经常发生的事件,特别是影响9号染色体。一个队列中没有获得17号和18号染色体的超二倍体ALL患儿的预后较差。分子异位核型分析是定义包括UPD在内的小遗传异常的强大工具,通常被标准方法所忽略。这项技术能够根据其遗传状况检测出预后不良的亚组。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
代理获取

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号