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分层医学儿科学：游离DNA和连续肿瘤测序可识别亚型特异性癌症演变及表观遗传状态。

Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

作者信息

George Sally L, Lynn Claire, Stankunaite Reda, Hughes Debbie, Sauer Carolin M, Chalker Jane, Waqar Ahmed Saira, Oostveen Minou, Proszek Paula Z, Yuan Lina, Shaikh Ridwan, Jamal Sabri, Brew Ama, Tall Jennifer, Rogers Tony, Clifford Steven C, Vormoor Josef, Shipley Janet M, Tweddle Deborah A, Jones Chris, Willis Courtney, Burke G A Amos, Vedi Aditi, Howell Lisa, Johnston Robert, Rees Helen, Adams Madeleine, Jesudason Angela, Ronghe Milind, Elliott Martin, Ross Emma, Makin Guy, Campbell-Hewson Quentin, Grundy Richard G, Turnbull Jennifer, Wilson Shaun, Lee Victoria, Gray Juliet C, Stoneham Sara, Gatz Susanne A, Marshall Lynley V, Angelini Paola, Anderson John, Cresswell George D, Graham Trevor A, Al-Lazikani Bissan, Cortés-Ciriano Isidro, Kearns Pamela, Hutchinson J Ciaran, Hargrave Darren, Jacques Thomas S, Hubank Michael, Sottoriva Andrea, Chesler Louis

机构信息

Paediatric Oncology Experimental Medicine Centre (POEM), The Institute of Cancer Research, London, United Kingdom.

Children and Young People's Unit, The Royal Marsden Hospital, London, United Kingdom.

出版信息

Cancer Discov. 2025 Apr 2;15(4):717-732. doi: 10.1158/2159-8290.CD-24-0916.

DOI:10.1158/2159-8290.CD-24-0916
PMID:39693475
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11962403/
Abstract

In tumors of childhood, we identify mutations in epigenetic genes as drivers of relapse, with matched cfDNA sequencing showing significant intratumor genetic heterogeneity and cell-state specific patterns of chromatin accessibility. This highlights the power of cfDNA analysis to identify both genetic and epigenetic drivers of aggressive disease in pediatric cancers.

摘要

在儿童肿瘤中，我们鉴定出表观遗传基因中的突变是复发的驱动因素，匹配的游离DNA测序显示出显著的肿瘤内遗传异质性和染色质可及性的细胞状态特异性模式。这凸显了游离DNA分析在识别儿童癌症侵袭性疾病的遗传和表观遗传驱动因素方面的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c03a/11962403/728a0ad784a4/cd-24-0916fig6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c03a/11962403/fe1ca12d88fd/cd-24-0916fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c03a/11962403/994341bfe2f0/cd-24-0916fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c03a/11962403/413fcadd77f4/cd-24-0916fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c03a/11962403/0e636db0fb97/cd-24-0916fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c03a/11962403/32002adc5e83/cd-24-0916fig5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c03a/11962403/728a0ad784a4/cd-24-0916fig6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c03a/11962403/fe1ca12d88fd/cd-24-0916fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c03a/11962403/994341bfe2f0/cd-24-0916fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c03a/11962403/413fcadd77f4/cd-24-0916fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c03a/11962403/0e636db0fb97/cd-24-0916fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c03a/11962403/32002adc5e83/cd-24-0916fig5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c03a/11962403/728a0ad784a4/cd-24-0916fig6.jpg

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本文引用的文献

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Single cell transcriptomic profiling identifies tumor-acquired and therapy-resistant cell states in pediatric rhabdomyosarcoma.单细胞转录组谱分析鉴定小儿横纹肌肉瘤中的肿瘤获得性和治疗耐药细胞状态。
Nat Commun. 2024 Jul 26;15(1):6307. doi: 10.1038/s41467-024-50527-2.
2
Sequential Analysis of cfDNA Reveals Clonal Evolution in Patients with Neuroblastoma Receiving ALK-Targeted Therapy.循环游离DNA的序列分析揭示了接受ALK靶向治疗的神经母细胞瘤患者的克隆进化。
Clin Cancer Res. 2024 Aug 1;30(15):3316-3328. doi: 10.1158/1078-0432.CCR-24-0753.
3
Impact of germline DNA repair gene variants on prognosis and treatment of men with advanced prostate cancer.
胚系 DNA 修复基因变异对晚期前列腺癌男性患者预后和治疗的影响。
Sci Rep. 2023 Nov 6;13(1):19135. doi: 10.1038/s41598-023-46323-5.
4
Circulating tumor DNA reveals mechanisms of lorlatinib resistance in patients with relapsed/refractory ALK-driven neuroblastoma.循环肿瘤 DNA 揭示了复发/难治性 ALK 驱动神经母细胞瘤患者对 lorlatinib 耐药的机制。
Nat Commun. 2023 May 5;14(1):2601. doi: 10.1038/s41467-023-38195-0.
5
Identification and Characterization of the Wilms Tumor Cancer Stem Cell.鉴定和表征肾母细胞瘤癌症干细胞。
Adv Sci (Weinh). 2023 Jul;10(20):e2206787. doi: 10.1002/advs.202206787. Epub 2023 Apr 28.
6
Genomic ALK alterations in primary and relapsed neuroblastoma.原发和复发神经母细胞瘤中的基因组 ALK 改变。
Br J Cancer. 2023 Apr;128(8):1559-1571. doi: 10.1038/s41416-023-02208-y. Epub 2023 Feb 17.
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Nat Commun. 2023 Jan 17;14(1):252. doi: 10.1038/s41467-023-35880-y.
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Nat Cancer. 2023 Feb;4(2):203-221. doi: 10.1038/s43018-022-00474-y. Epub 2022 Dec 30.
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