利用RNA测序在一名急性淋巴细胞白血病患者中鉴定重排：病例报告 - Suppr

Suppr

超能文献

Identification of Rearrangements Using RNA-sequencing in a Patient with ALL: A Case Report.

作者信息

Lim Seoyoung, Choi Yu Jeong, Yeom Eunju, Ahn Won Kee, Lee Seung-Tae, Choi Jong Rak, Hahn Seungmin, Shin Saeam

机构信息

Graduate School of Medical Science, Brain Korea 21 PLUS Project, Yonsei University College of Medicine, Seoul, Korea.

Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.

出版信息

Ann Lab Med. 2025 May 1;45(3):339-342. doi: 10.3343/alm.2024.0622. Epub 2025 Apr 3.

DOI:10.3343/alm.2024.0622

PMID:40176549

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11996694/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ec6/11996694/f36af92b644a/alm-45-3-339-f1.jpg

相似文献

Identification of Rearrangements Using RNA-sequencing in a Patient with ALL: A Case Report.利用RNA测序在一名急性淋巴细胞白血病患者中鉴定重排：病例报告

Ann Lab Med. 2025 May 1;45(3):339-342. doi: 10.3343/alm.2024.0622. Epub 2025 Apr 3.

A dedicated caller for DUX4 rearrangements from whole-genome sequencing data.一种用于从全基因组测序数据中检测DUX4重排的专用程序。

BMC Med Genomics. 2025 Jan 30;18(1):24. doi: 10.1186/s12920-024-02069-1.

Transcription factor 12-mediated self-feedback regulatory mechanism is required in DUX4 fusion leukaemia.转录因子 12 介导的自我反馈调节机制是 DUX4 融合白血病所必需的。

Clin Transl Med. 2023 Dec;13(12):e1514. doi: 10.1002/ctm2.1514.

Long-read sequencing unveils IGH-DUX4 translocation into the silenced IGH allele in B-cell acute lymphoblastic leukemia.长读测序揭示了 B 细胞急性淋巴细胞白血病中 IGH-DUX4 易位到沉默的 IGH 等位基因。

Nat Commun. 2019 Jun 26;10(1):2789. doi: 10.1038/s41467-019-10637-8.

DNA crosslinking and recombination-activating genes 1/2 (RAG1/2) are required for oncogenic splicing in acute lymphoblastic leukemia.DNA 交联和重组激活基因 1/2（RAG1/2）是急性淋巴细胞白血病中致癌剪接所必需的。

Cancer Commun (Lond). 2021 Nov;41(11):1116-1136. doi: 10.1002/cac2.12234. Epub 2021 Oct 26.

Identifying IGH disease clones for MRD monitoring in childhood B-cell acute lymphoblastic leukemia using RNA-Seq.利用 RNA-Seq 技术检测儿童 B 细胞急性淋巴细胞白血病微小残留病灶中的 IGH 疾病克隆。

Leukemia. 2020 Sep;34(9):2418-2429. doi: 10.1038/s41375-020-0774-4. Epub 2020 Feb 25.

Elucidating a false-negative break-apart fluorescence in situ hybridization probe study by next-generation sequencing in a patient with high-grade B-cell lymphoma with and rearrangements.通过二代测序对一名伴有和重排的高级别B细胞淋巴瘤患者进行假阴性断裂荧光原位杂交探针研究的阐释

Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3). doi: 10.1101/mcs.a004077. Print 2019 Jun.

Structural basis of DUX4/IGH-driven transactivation.DUX4/IGH 驱动的反式激活的结构基础。

Leukemia. 2018 Jun;32(6):1466-1476. doi: 10.1038/s41375-018-0093-1. Epub 2018 Mar 15.

Clinical utility of next generation sequencing to detect IGH/IL3 rearrangements [t(5;14)(q31.1;q32.1)] in B-lymphoblastic leukemia/lymphoma.检测 IGH/IL3 重排[t(5;14)(q31.1;q32.1)]在 B 淋巴细胞白血病/淋巴瘤中的下一代测序的临床效用。

Ann Diagn Pathol. 2021 Aug;53:151761. doi: 10.1016/j.anndiagpath.2021.151761. Epub 2021 May 10.

Molecular features responsible for the absence of immunoglobulin heavy chain protein synthesis in an IgH(-) subgroup of multiple myeloma.多发性骨髓瘤IgH(-)亚组中免疫球蛋白重链蛋白合成缺失的分子特征。

Blood. 2000 Aug 1;96(3):1087-93.

本文引用的文献

Rearrangements in Leukemia Patients: A Case Series From a Single Institution.白血病患者的重排：来自单中心的病例系列。

Ann Lab Med. 2024 Jul 1;44(4):335-342. doi: 10.3343/alm.2023.0301. Epub 2023 Dec 26.

International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data.国际髓系肿瘤和急性白血病分类：整合形态学、临床和基因组数据。

Blood. 2022 Sep 15;140(11):1200-1228. doi: 10.1182/blood.2022015850.

Distinct clinical characteristics of DUX4- and PAX5-altered childhood B-lymphoblastic leukemia.具有 DUX4 和 PAX5 改变的儿童 B 淋巴细胞白血病的独特临床特征。

Blood Adv. 2021 Dec 14;5(23):5226-5238. doi: 10.1182/bloodadvances.2021004895.

DUX Hunting-Clinical Features and Diagnostic Challenges Associated with -Rearranged Leukaemia.DUX相关重排白血病的临床特征及诊断挑战

Cancers (Basel). 2020 Sep 30;12(10):2815. doi: 10.3390/cancers12102815.

Nat Commun. 2019 Jun 26;10(1):2789. doi: 10.1038/s41467-019-10637-8.

CD371 cell surface expression: a unique feature of -rearranged acute lymphoblastic leukemia.CD371细胞表面表达：重排型急性淋巴细胞白血病的独特特征。

Haematologica. 2019 Aug;104(8):e352-e355. doi: 10.3324/haematol.2018.214353. Epub 2019 Jan 31.

deletions in childhood acute lymphoblastic leukemia with rearrangements are mostly polyclonal, prognostically relevant and their detection rate strongly depends on screening method sensitivity.在伴有重排的儿童急性淋巴细胞白血病中，缺失大多是多克隆的，与预后相关，其检出率强烈依赖于筛选方法的灵敏度。

Haematologica. 2019 Jul;104(7):1407-1416. doi: 10.3324/haematol.2018.204487. Epub 2019 Jan 10.

Deregulation of DUX4 and ERG in acute lymphoblastic leukemia.急性淋巴细胞白血病中DUX4和ERG的失调

Nat Genet. 2016 Dec;48(12):1481-1489. doi: 10.1038/ng.3691. Epub 2016 Oct 24.

Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults.青少年和年轻成人 B 细胞急性淋巴细胞白血病中的复发性 DUX4 融合。

Nat Genet. 2016 May;48(5):569-74. doi: 10.1038/ng.3535. Epub 2016 Mar 28.

CREBBP mutations in relapsed acute lymphoblastic leukaemia.复发急性淋巴细胞白血病中的 CREBBP 突变。

Nature. 2011 Mar 10;471(7337):235-9. doi: 10.1038/nature09727.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验