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对循环肿瘤DNA（ctDNA）中的端粒酶逆转录酶（TERT）重排断点进行连续定量可实现神经母细胞瘤患者的微小残留病监测。

Serially Quantifying TERT Rearrangement Breakpoints in ctDNA Enables Minimal Residual Disease Monitoring in Patients with Neuroblastoma.

作者信息

Hollander Jan F, Szymansky Annabell, Wünschel Jasmin, Astrahantseff Kathy, Rosswog Carolina, Thorwarth Anne, Thole-Kliesch Theresa M, Chamorro González Rocío, Hundsdörfer Patrick, Hauptmann Kathrin, Schmelz Karin, Gürgen Dennis, Rogasch Julian M M, Henssen Anton G, Fischer Matthias, Schulte Johannes H, Eckert Cornelia, Eggert Angelika, Lodrini Marco, Deubzer Hedwig E

机构信息

Department of Pediatric Oncology and Hematology, Campus Virchow Klinikum, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Department of Experimental Pediatric Oncology, University Children's Hospital of Cologne, Cologne, Germany.

出版信息

Cancer Res Commun. 2025 Jan 1;5(1):167-177. doi: 10.1158/2767-9764.CRC-24-0569.

DOI:10.1158/2767-9764.CRC-24-0569
PMID:39760332
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11774142/
Abstract

Real-time molecular monitoring of TERT-rearranged high-risk neuroblastoma is an unmet clinical need. We tested liquid biopsy-based assays for patient-individualized TERT breakpoint sequences to monitor disease in pediatric patients. Our digital PCR approach provides high resolution of spatial and temporal disease quantification in individual patients and is applicable for clinical routine.

摘要

对端粒酶逆转录酶（TERT）重排的高危神经母细胞瘤进行实时分子监测是一项尚未满足的临床需求。我们测试了基于液体活检的检测方法，以获取患者个体化的TERT断点序列，从而监测儿科患者的疾病情况。我们的数字PCR方法能够对个体患者的疾病进行高分辨率的时空定量分析，并且适用于临床常规检测。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a3d0/11774142/e4e1d35b6786/crc-24-0569_f6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a3d0/11774142/bb11e6c16be4/crc-24-0569_f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a3d0/11774142/ee561b86adfe/crc-24-0569_f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a3d0/11774142/468d4fb222d5/crc-24-0569_f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a3d0/11774142/a8695dae22f8/crc-24-0569_f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a3d0/11774142/a217956d1428/crc-24-0569_f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a3d0/11774142/e4e1d35b6786/crc-24-0569_f6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a3d0/11774142/bb11e6c16be4/crc-24-0569_f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a3d0/11774142/ee561b86adfe/crc-24-0569_f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a3d0/11774142/468d4fb222d5/crc-24-0569_f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a3d0/11774142/a8695dae22f8/crc-24-0569_f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a3d0/11774142/a217956d1428/crc-24-0569_f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a3d0/11774142/e4e1d35b6786/crc-24-0569_f6.jpg

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本文引用的文献

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Cell Genom. 2023 Sep 7;3(10):100402. doi: 10.1016/j.xgen.2023.100402. eCollection 2023 Oct 11.
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Clonal evolution during metastatic spread in high-risk neuroblastoma.高危神经母细胞瘤转移过程中的克隆进化。
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Targeted locus amplification to develop robust patient-specific assays for liquid biopsies in pediatric solid tumors.
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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.
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Blinatumomab Added to Chemotherapy in Infant Lymphoblastic Leukemia.Blinatumomab 联合化疗治疗婴儿急性淋巴细胞白血病。
N Engl J Med. 2023 Apr 27;388(17):1572-1581. doi: 10.1056/NEJMoa2214171.
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promoter mutations and methylation for telomerase activation in urothelial carcinomas: New mechanistic insights and clinical significance.膀胱癌中端粒酶激活的启动子突变和甲基化：新的机制见解和临床意义。
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A Deep Dive into the Circulating ctDNA Cosmos to Vanquish Neuroblastoma.深入循环 ctDNA 宇宙，攻克神经母细胞瘤。
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Serial Profiling of Circulating Tumor DNA Identifies Dynamic Evolution of Clinically Actionable Genomic Alterations in High-Risk Neuroblastoma.循环肿瘤 DNA 序列分析鉴定高危神经母细胞瘤中临床可操作基因组改变的动态演变。
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