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急性髓系白血病患者中TET2单核苷酸多态性I1762V的临床意义及预后影响分析

[Analysis of clinical significance and prognostic impact of TET2 single nucleotide polymorphism I1762V in patients with acute myeloid leukemia].

作者信息

Li Y W, Guo Z, Wang L L, Zhou L, Lyu X D, Song Y P

机构信息

Central Lab, the Affiliated Cancer Hospital of Zhengzhou University, Henan Cancer Hospital, Zhengzhou 450008, China.

Department of Hematology, the Affiliated Cancer Hospital of Zhengzhou University, Henan Cancer Hospital, Zhengzhou, Henan 450008, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2022 Mar 14;43(3):241-246. doi: 10.3760/cma.j.issn.0253-2727.2022.03.010.

DOI:10.3760/cma.j.issn.0253-2727.2022.03.010
PMID:35405783
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9072067/
Abstract

This study aimed to investigate the clinical and prognostic significance of TET2 single nucleotide polymorphism I1762V in patients with acute myeloid leukemia (AML) . The high-throughput sequencing method was used to sequence 58 hematological tumor-related genes in bone marrow samples from 413 patients with AML. TET2 I1762V and other somatic mutations were annotated and compared with patients' clinical information and prognosis. I1762V was found in 154 patients with AML, which was significantly different from the general population in NyuWa Chinese Population Variant Database ((2)=72.4, <0.001) . I1762V was not related to sex, age, and karyotype of patients with AML (>0.05) . Patients with I1762V had a significantly higher proportion of NPM1 and KIT gene mutations than others (<0.001) . NPM1 and KIT mutations were mutually exclusive. The survival analysis results revealed that the overall survival (OS) and progression-free survival (PFS) of patients with AML with I1762V were significantly greater than those of wild-type patients (=0.57, =0.030; =0.55, =0.020) , whereas the OS and PFS in patients with AML with DNMT3A mutation (with or without I1762V mutation) were lower than those of wild-type patients (=1.79, =0.030; =1.74, =0.040) . TET2 SNP I1762V has been linked to AML. I1762V is a prognostic factor of patients with AML, which can be used to guide the treatment and evaluate the prognosis of AML.

摘要

本研究旨在探讨TET2单核苷酸多态性I1762V在急性髓系白血病（AML）患者中的临床及预后意义。采用高通量测序方法对413例AML患者骨髓样本中的58个血液肿瘤相关基因进行测序。对TET2 I1762V及其他体细胞突变进行注释，并与患者的临床信息和预后进行比较。在154例AML患者中发现了I1762V，其与《女娲中国人种变异数据库》中的一般人群有显著差异（χ²=72.4，P<0.001）。I1762V与AML患者的性别、年龄和核型无关（P>0.05）。I1762V患者的NPM1和KIT基因突变比例显著高于其他患者（P<0.001）。NPM1和KIT突变相互排斥。生存分析结果显示，携带I1762V的AML患者的总生存期（OS）和无进展生存期（PFS）显著长于野生型患者（HR=0.57，P=0.030；HR=0.55，P=0.020），而携带DNMT3A突变（有或无I1762V突变）的AML患者的OS和PFS低于野生型患者（HR=1.79，P=0.030；HR=1.74，P=0.040）。TET2单核苷酸多态性I1762V与AML有关。I1762V是AML患者的一个预后因素，可用于指导AML的治疗和评估预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/52d9/9072067/3449b0e8ab11/cjh-43-03-241-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/52d9/9072067/0dd1cb85a354/cjh-43-03-241-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/52d9/9072067/848487d1a6ac/cjh-43-03-241-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/52d9/9072067/3449b0e8ab11/cjh-43-03-241-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/52d9/9072067/0dd1cb85a354/cjh-43-03-241-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/52d9/9072067/848487d1a6ac/cjh-43-03-241-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/52d9/9072067/3449b0e8ab11/cjh-43-03-241-g003.jpg

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Leukemia. 2020 May;34(5):1450-1453. doi: 10.1038/s41375-019-0675-6. Epub 2019 Dec 11.
3
How I investigate acute myeloid leukemia.我如何研究急性髓系白血病。
Int J Lab Hematol. 2020 Feb;42(1):3-15. doi: 10.1111/ijlh.13135. Epub 2019 Dec 10.
4
Acute Myeloid Leukemia, Version 3.2019, NCCN Clinical Practice Guidelines in Oncology.急性髓细胞白血病，第 3.2019 版，NCCN 肿瘤学临床实践指南。
J Natl Compr Canc Netw. 2019 Jun 1;17(6):721-749. doi: 10.6004/jnccn.2019.0028.
5
Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans.TET2 部分功能缺失对人类分子及临床表型的影响。
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Correlation of TET2 SNP rs2454206 with improved survival in children with acute myeloid leukemia featuring intermediate-risk cytogenetics.TET2 SNP rs2454206 与伴有中危细胞遗传学特征的儿童急性髓系白血病患者生存改善的相关性。
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7
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8
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