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本文引用的文献

1
Retinoic acid and arsenic trioxide for acute promyelocytic leukemia.全反式维甲酸和三氧化二砷联合治疗急性早幼粒细胞白血病。
N Engl J Med. 2013 Jul 11;369(2):111-21. doi: 10.1056/NEJMoa1300874.
2
Clinico-biological features of 5202 patients with acute lymphoblastic leukemia enrolled in the Italian AIEOP and GIMEMA protocols and stratified in age cohorts.5202 例意大利 AIEOP 和 GIMEMA 方案中急性淋巴细胞白血病患者的临床生物学特征,并按年龄队列分层。
Haematologica. 2013 Nov;98(11):1702-10. doi: 10.3324/haematol.2012.080432. Epub 2013 May 28.
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Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.成人新发急性髓系白血病的基因组和表观基因组图谱。
N Engl J Med. 2013 May 30;368(22):2059-74. doi: 10.1056/NEJMoa1301689. Epub 2013 May 1.
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The MLL recombinome of acute leukemias in 2013.2013 年急性白血病的 MLL 重排组。
Leukemia. 2013 Nov;27(11):2165-76. doi: 10.1038/leu.2013.135. Epub 2013 Apr 30.
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Acute lymphoblastic leukaemia.急性淋巴细胞白血病。
Lancet. 2013 Jun 1;381(9881):1943-55. doi: 10.1016/S0140-6736(12)62187-4. Epub 2013 Mar 22.
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TP53 mutations are frequent in adult acute lymphoblastic leukemia cases negative for recurrent fusion genes and correlate with poor response to induction therapy.TP53突变在复发性融合基因阴性的成人急性淋巴细胞白血病病例中很常见,并且与诱导治疗反应不佳相关。
Haematologica. 2013 May;98(5):e59-61. doi: 10.3324/haematol.2012.076786. Epub 2013 Feb 12.
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
Relapse-specific mutations in NT5C2 in childhood acute lymphoblastic leukemia.儿童急性淋巴细胞白血病中 NT5C2 的复发特异性突变。
Nat Genet. 2013 Mar;45(3):290-4. doi: 10.1038/ng.2558. Epub 2013 Feb 3.
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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.
10
Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia.外显子组测序鉴定出 T 细胞急性淋巴细胞白血病中 CNOT3 基因和核糖体基因 RPL5、RPL10 的突变。
Nat Genet. 2013 Feb;45(2):186-90. doi: 10.1038/ng.2508. Epub 2012 Dec 23.

急性白血病的基因组特征

Genomic characterization of acute leukemias.

作者信息

Chiaretti Sabina, Gianfelici Valentina, Ceglie Giulia, Foà Robin

机构信息

Division of Hematology, Department of Cellular Biotechnologies and Hematology, Sapienza University of Rome, Rome, Italy.

出版信息

Med Princ Pract. 2014;23(6):487-506. doi: 10.1159/000362793. Epub 2014 Jun 20.

DOI:10.1159/000362793
PMID:24968698
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5586934/
Abstract

Over the past two decades, hematologic malignancies have been extensively evaluated due to the introduction of powerful technologies, such as conventional karyotyping, FISH analysis, gene and microRNA expression profiling, array comparative genomic hybridization and SNP arrays, and next-generation sequencing (including whole-exome sequencing and RNA-seq). These analyses have allowed for the refinement of the mechanisms underlying the leukemic transformation in several oncohematologic disorders and, more importantly, they have permitted the definition of novel prognostic algorithms aimed at stratifying patients at the onset of disease and, consequently, treating them in the most appropriate manner. Furthermore, the identification of specific molecular markers is opening the door to targeted and personalized medicine. The most important findings on novel acquisitions in the context of acute lymphoblastic leukemia of both B and T lineage and de novo acute myeloid leukemia are described in this review.

摘要

在过去二十年中,由于强大技术的引入,血液系统恶性肿瘤得到了广泛评估,这些技术包括传统核型分析、荧光原位杂交(FISH)分析、基因和微小RNA表达谱分析、阵列比较基因组杂交和单核苷酸多态性(SNP)阵列,以及下一代测序(包括全外显子组测序和RNA测序)。这些分析有助于完善几种血液肿瘤疾病中白血病转化的潜在机制,更重要的是,它们使得能够定义新的预后算法,旨在在疾病初发时对患者进行分层,从而以最恰当的方式对其进行治疗。此外,特定分子标志物的识别为靶向和个性化医学打开了大门。本综述描述了在B系和T系急性淋巴细胞白血病以及原发性急性髓系白血病背景下新发现的最重要成果。