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基于拷贝数分析鉴定小儿急性淋巴细胞白血病中的新型基因改变。

Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis.

作者信息

Batista-Gomes Jéssica Almeida, Mello Fernando Augusto Rodrigues, de Oliveira Edivaldo Herculano Corrêa, de Souza Michel Platini Caldas, Wanderley Alayde Vieira, da Costa Pantoja Laudreisa, Dos Santos Ney Pereira Carneiro, Khayat Bruna Cláudia Meireles, Khayat André Salim

机构信息

Oncology Research Center, Federal University of Pará, Belém, Brazil.

Cell culture and Cytogenetic Laboratory, Evandro Chagas Institute, Ananindeua, Brazil.

出版信息

Mol Cytogenet. 2020 Jun 26;13:25. doi: 10.1186/s13039-020-00491-5. eCollection 2020.

DOI:10.1186/s13039-020-00491-5
PMID:32607130
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7320540/
Abstract

Copy number variations (CNVs) analysis may reveal molecular biomarkers and provide information on the pathogenesis of acute lymphoblastic leukemia (ALL). We investigated the gene copy number in childhood ALL by microarray and select three new recurrent CNVs to evaluate by real-time PCR assay: , and were selected due to high frequency of CNVs in ALL samples and based on their potential biological functions in carcinogenesis described in the literature. deletion was associated with patients with chromosomal translocations and is a potential tumor suppressor; and may act as an oncogene despite having a paradoxical behavior in carcinogenesis. This study reinforces that microarrays/aCGH is it is a powerful tool for detection of genomic aberrations, which may be used in the risk stratification.

摘要

拷贝数变异（CNV）分析可能揭示分子生物标志物，并提供有关急性淋巴细胞白血病（ALL）发病机制的信息。我们通过微阵列研究了儿童ALL中的基因拷贝数，并选择了三个新的复发性CNV通过实时PCR分析进行评估：由于ALL样本中CNV的高频率以及基于文献中描述的它们在致癌作用中的潜在生物学功能，选择了[具体基因缺失1]、[具体基因缺失2]和[具体基因缺失3]。[具体基因缺失1]缺失与染色体易位患者相关，是一种潜在的肿瘤抑制因子；[具体基因缺失2]和[具体基因缺失3]尽管在致癌作用中具有矛盾的行为，但可能作为癌基因起作用。这项研究强化了微阵列/aCGH是检测基因组畸变的有力工具，可用于风险分层。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f554/7320540/7a82c47db855/13039_2020_491_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f554/7320540/790353e34c33/13039_2020_491_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f554/7320540/7a82c47db855/13039_2020_491_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f554/7320540/790353e34c33/13039_2020_491_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f554/7320540/7a82c47db855/13039_2020_491_Fig2_HTML.jpg

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本文引用的文献

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PRDM16s transforms megakaryocyte-erythroid progenitors into myeloid leukemia-initiating cells.PRDM16s 将巨核细胞-红细胞祖细胞转化为髓系白血病起始细胞。
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lncRNA KIAA0125 functions as a tumor suppressor modulating growth and metastasis of colorectal cancer via Wnt/β-catenin pathway.
长链非编码RNA KIAA0125作为一种肿瘤抑制因子，通过Wnt/β-连环蛋白信号通路调节结直肠癌的生长和转移。
Cell Biol Int. 2019 Dec;43(12):1463-1470. doi: 10.1002/cbin.11196. Epub 2019 Jul 17.
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Whole transcriptome sequencing identifies crucial genes associated with colon cancer and elucidation of their possible mechanisms of action.全转录组测序鉴定出与结肠癌相关的关键基因，并阐明其可能的作用机制。
Onco Targets Ther. 2019 Apr 10;12:2737-2747. doi: 10.2147/OTT.S195235. eCollection 2019.
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Clinical and biological features of paediatric acute myeloid leukaemia (AML) with primary induction failure in the Japanese Paediatric Leukaemia/Lymphoma Study Group AML-05 study.日本儿科白血病/淋巴瘤研究组 AML-05 研究中原发性诱导失败的儿童急性髓系白血病（AML）的临床和生物学特征。
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Long Non-Coding RNA and Acute Leukemia.长链非编码 RNA 与急性白血病
Int J Mol Sci. 2019 Feb 9;20(3):735. doi: 10.3390/ijms20030735.
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