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对有髓系恶性肿瘤风险的患者进行突变筛查。

mutation screening for patients at risk of myeloid malignancy.

作者信息

Mukherjee Devdeep, Lawal Rialnat A, Fitzhugh Courtney D, Hourigan Christopher S, Dillon Laura W

机构信息

Laboratory of Myeloid Malignancies, Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD.

Cellular and Molecular Therapeutics Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD.

出版信息

medRxiv. 2024 Feb 8:2024.02.06.24302401. doi: 10.1101/2024.02.06.24302401.

DOI:10.1101/2024.02.06.24302401
PMID:38410480
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10896414/
Abstract

There is increasing recognition of the risk of developing therapy-related myeloid malignancy, including after cellular therapy. While retrospective studies have implicated pre-existing mutated hematopoietic clones as a common causative mechanism, no prospective screening to identify those patients at greatest risk is currently possible. We demonstrate that ultradeep DNA-sequencing prior to therapy may be used for discovery of mutations that are subsequently associated with malignancy.

摘要

人们越来越认识到发生治疗相关髓系恶性肿瘤的风险，包括细胞治疗后。虽然回顾性研究表明预先存在的突变造血克隆是常见的致病机制，但目前尚无法进行前瞻性筛查以识别那些风险最高的患者。我们证明，治疗前的超深度DNA测序可用于发现随后与恶性肿瘤相关的突变。

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mutation screening for patients at risk of myeloid malignancy.对有髓系恶性肿瘤风险的患者进行突变筛查。
medRxiv. 2024 Feb 8:2024.02.06.24302401. doi: 10.1101/2024.02.06.24302401.
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本文引用的文献

1
DNA Sequencing to Detect Residual Disease in Adults With Acute Myeloid Leukemia Prior to Hematopoietic Cell Transplant.DNA 测序检测造血细胞移植前急性髓系白血病成人患者的残留疾病。
JAMA. 2023 Mar 7;329(9):745-755. doi: 10.1001/jama.2023.1363.
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Tracking the evolution of therapy-related myeloid neoplasms using chemotherapy signatures.利用化疗特征追踪治疗相关髓系肿瘤的演变。
Blood. 2023 May 11;141(19):2359-2371. doi: 10.1182/blood.2022018244.
3
High-dose melphalan treatment significantly increases mutational burden at relapse in multiple myeloma.
高剂量美法仑治疗显著增加多发性骨髓瘤复发时的突变负担。
Blood. 2023 Apr 6;141(14):1724-1736. doi: 10.1182/blood.2022017094.
4
Distinct clonal identities of B-ALLs arising after lenolidomide therapy for multiple myeloma.来那度胺治疗多发性骨髓瘤后出现的 B-ALL 具有独特的克隆特征。
Blood Adv. 2023 Jan 24;7(2):236-245. doi: 10.1182/bloodadvances.2022007496.
5
Increased incidence of hematologic malignancies in SCD after HCT in adults with graft failure and mixed chimerism.造血系统恶性肿瘤在成人移植物失败和混合嵌合体后 HCT 后 SCD 中的发生率增加。
Blood. 2022 Dec 8;140(23):2514-2518. doi: 10.1182/blood.2022017960.
6
Ciltacabtagene Autoleucel, an Anti-B-cell Maturation Antigen Chimeric Antigen Receptor T-Cell Therapy, for Relapsed/Refractory Multiple Myeloma: CARTITUDE-1 2-Year Follow-Up.西达基奥仑赛，一种抗 B 细胞成熟抗原嵌合抗原受体 T 细胞疗法，用于治疗复发/难治性多发性骨髓瘤：CARTITUDE-1 研究 2 年随访结果。
J Clin Oncol. 2023 Feb 20;41(6):1265-1274. doi: 10.1200/JCO.22.00842. Epub 2022 Jun 4.
7
Baseline TP53 mutations in adults with SCD developing myeloid malignancy following hematopoietic cell transplantation.成人 SCD 患者造血细胞移植后发生髓系恶性肿瘤的基线 TP53 突变。
Blood. 2020 Apr 2;135(14):1185-1188. doi: 10.1182/blood.2019004001.
8
Genomics of therapy-related myeloid neoplasms.治疗相关髓系肿瘤的基因组学
Haematologica. 2020 Mar;105(3):e98-e101. doi: 10.3324/haematol.2019.219352. Epub 2019 Aug 14.
9
Functional genomic landscape of acute myeloid leukaemia.急性髓系白血病的功能基因组图谱。
Nature. 2018 Oct;562(7728):526-531. doi: 10.1038/s41586-018-0623-z. Epub 2018 Oct 17.
10
Therapy-related myeloid neoplasms: does knowing the origin help to guide treatment?治疗相关的髓系肿瘤：了解起源有助于指导治疗吗？
Hematology Am Soc Hematol Educ Program. 2016 Dec 2;2016(1):24-32. doi: 10.1182/asheducation-2016.1.24.