儿科白血病的新兴技术。
Emerging technologies in paediatric leukaemia.
机构信息
IGENZ Ltd, Level 2, Quay Park Health, Auckland 1010, New Zealand.
出版信息
Transl Pediatr. 2015 Apr;4(2):116-24. doi: 10.3978/j.issn.2224-4336.2015.03.02.
Abstract
Genetic changes, in particular chromosomal aberrations, are a hallmark of acute lymphoblastic lymphoma (ALL) and accurate detection of them is important in ensuring assignment to the appropriate drug protocol. Our ability to detect these genetic changes has been somewhat limited in the past due to the necessity to analyse mitotically active cells by conventional G-banded metaphase analysis and by mutational analysis of individual genes. Advances in technology include high resolution, microarray-based techniques that permit examination of the whole genome. Here we will review the current available methodology and discuss how the technology is being integrated into the diagnostic setting.
摘要
遗传变化，尤其是染色体异常，是急性淋巴细胞白血病 (ALL) 的一个标志，准确检测这些变化对于确保分配到适当的药物方案非常重要。由于过去需要通过常规的 G 带中期分析和个别基因的突变分析来分析有丝分裂活性细胞，因此我们检测这些遗传变化的能力有些受限。技术的进步包括高分辨率、基于微阵列的技术，可用于检查整个基因组。在这里，我们将回顾当前可用的方法，并讨论该技术如何融入诊断环境。
相似文献
1
Emerging technologies in paediatric leukaemia.儿科白血病的新兴技术。
Transl Pediatr. 2015 Apr;4(2):116-24. doi: 10.3978/j.issn.2224-4336.2015.03.02.
2
Apply innovative technologies to explore cancer genome.应用创新技术探索癌症基因组。
Curr Opin Oncol. 2005 Jan;17(1):33-8. doi: 10.1097/01.cco.0000147382.97085.e4.
3
Hidden aberrations diagnosed by interphase fluorescence in situ hybridisation and spectral karyotyping in childhood acute lymphoblastic leukaemia.通过间期荧光原位杂交和光谱核型分析诊断儿童急性淋巴细胞白血病中的隐匿性畸变
Leuk Lymphoma. 2003 Dec;44(12):2039-53. doi: 10.1080/1042819031000083361.
4
Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G-banding. Implications for treatment stratification of childhood acute lymphoblastic leukaemia: detailed analysis of 70 cases.光谱核型分析和间期荧光原位杂交揭示了常规G显带未检测到的异常。对儿童急性淋巴细胞白血病治疗分层的意义：70例病例的详细分析。
Eur J Haematol. 2002 Jan;68(1):31-41. doi: 10.1034/j.1600-0609.2002.00547.x.
5
High-resolution comparative genomic hybridisation yields a high detection rate of chromosomal aberrations in childhood acute lymphoblastic leukaemia.高分辨率比较基因组杂交技术在儿童急性淋巴细胞白血病中对染色体畸变的检测率很高。
Eur J Haematol. 2003 Jun;70(6):363-72. doi: 10.1034/j.1600-0609.2003.00072.x.
6
Molecular karyotyping: from microscope to SNP arrays.分子核型分析：从显微镜到 SNP 芯片。
Horm Res Paediatr. 2011;76(3):208-13. doi: 10.1159/000330406. Epub 2011 Aug 25.
7
Microarray-based genomic profiling as a diagnostic tool in acute lymphoblastic leukemia.基于微阵列的基因组分析在急性淋巴细胞白血病中的诊断作用。
Genes Chromosomes Cancer. 2011 Dec;50(12):969-81. doi: 10.1002/gcc.20919. Epub 2011 Aug 31.
8
Oligo-based aCGH analysis reveals cryptic unbalanced der(6)t(X;6) in pediatric t(12;21)-positive acute lymphoblastic leukemia.基于寡核苷酸的阵列比较基因组杂交分析揭示了小儿t(12;21)阳性急性淋巴细胞白血病中隐匿的不平衡der(6)t(X;6)。
Exp Mol Pathol. 2016 Aug;101(1):38-43. doi: 10.1016/j.yexmp.2016.05.010. Epub 2016 May 20.
9
Method for manufacturing whole-genome microarrays by rolling circle amplification.通过滚环扩增制造全基因组微阵列的方法。
Genes Chromosomes Cancer. 2004 May;40(1):72-7. doi: 10.1002/gcc.20015.
10
Application of SNP genotype arrays to determine somatic changes in cancer.应用单核苷酸多态性（SNP）基因分型阵列来确定癌症中的体细胞变化。
Methods Mol Biol. 2009;538:179-206. doi: 10.1007/978-1-59745-418-6_9.
本文引用的文献
1
A novel integrated cytogenetic and genomic classification refines risk stratification in pediatric acute lymphoblastic leukemia.一种新型的综合细胞遗传学和基因组分类方法可细化儿童急性淋巴细胞白血病的风险分层。
Blood. 2014 Aug 28;124(9):1434-44. doi: 10.1182/blood-2014-03-562918. Epub 2014 Jun 23.
2
RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia.RAG 介导的重组是 ETV6-RUNX1 急性淋巴细胞白血病中致癌重排的主要驱动因素。
Nat Genet. 2014 Feb;46(2):116-25. doi: 10.1038/ng.2874. Epub 2014 Jan 12.
3
An international study of intrachromosomal amplification of chromosome 21 (iAMP21): cytogenetic characterization and outcome.国际研究显示 21 号染色体内部扩增（iAMP21）：细胞遗传学特征和结果。
Leukemia. 2014 May;28(5):1015-21. doi: 10.1038/leu.2013.317. Epub 2013 Oct 29.
4
Germline PAX5 mutations and B cell leukemia.胚系 PAX5 突变与 B 细胞白血病。
Nat Genet. 2013 Oct;45(10):1104-5. doi: 10.1038/ng.2778.
5
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.一种反复出现的 PAX5 种系突变可导致前 B 细胞急性淋巴细胞白血病易感性。
Nat Genet. 2013 Oct;45(10):1226-1231. doi: 10.1038/ng.2754. Epub 2013 Sep 8.
6
Lessons from next-generation sequencing analysis in hematological malignancies.血液恶性肿瘤下一代测序分析的启示。
Blood Cancer J. 2013 Jul 19;3(7):e127. doi: 10.1038/bcj.2013.26.
7
Activating mutations in the NT5C2 nucleotidase gene drive chemotherapy resistance in relapsed ALL.NT5C2 核苷酸酶基因的激活突变导致复发 ALL 的化疗耐药。
Nat Med. 2013 Mar;19(3):368-71. doi: 10.1038/nm.3078. Epub 2013 Feb 3.
8
The genomic landscape of hypodiploid acute lymphoblastic leukemia.低倍体急性淋巴细胞白血病的基因组景观。
Nat Genet. 2013 Mar;45(3):242-52. doi: 10.1038/ng.2532. Epub 2013 Jan 20.
9
Poor prognosis for P2RY8-CRLF2 fusion but not for CRLF2 over-expression in children with intermediate risk B-cell precursor acute lymphoblastic leukemia.伴有 P2RY8-CRLF2 融合而非 CRLF2 过表达的中危 B 细胞前体急性淋巴细胞白血病患儿预后不良。
Leukemia. 2012 Oct;26(10):2245-53. doi: 10.1038/leu.2012.101. Epub 2012 Apr 9.
10
Outcome modeling with CRLF2, IKZF1, JAK, and minimal residual disease in pediatric acute lymphoblastic leukemia: a Children's Oncology Group study.CRLF2、IKZF1、JAK 与儿童急性淋巴细胞白血病微小残留病灶联合构建预后模型：儿童肿瘤协作组研究。
Blood. 2012 Apr 12;119(15):3512-22. doi: 10.1182/blood-2011-11-394221. Epub 2012 Feb 24.
Zotero 插件