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真实世界数据:中东和北非地区下一代测序技术的实施与成果

Real-World Data: Implementation and Outcomes of Next-Generation Sequencing in the MENA Region.

作者信息

Mahfouz Rami, Abou Zeidane Reine, Diab Tasnim, Tarhini Ali, Sbaity Eman, Kazarian Houry, El Zibaoui Yomna, Naji Nour Sabiha, Barake Mounir, Assi Hazem I

机构信息

Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut P.O. Box 11-0236, Lebanon.

Department of Internal Medicine, Division of Hematology and Oncology, American University of Beirut Medical Center, Naef K Bassile Cancer Institute, Beirut P.O. Box 11-0236, Lebanon.

出版信息

Diagnostics (Basel). 2025 May 8;15(10):1183. doi: 10.3390/diagnostics15101183.

DOI:10.3390/diagnostics15101183
PMID:40428176
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12110402/
Abstract

In the era of precision medicine, Next-Generation Sequencing (NGS) has emerged as an important tool for identifying targetable mutations and tailoring treatment options. Yet the Middle East and North Africa (MENA) lags behind in adopting this technology. This study aims to demonstrate the transformative potential of molecular profiling in the region. This retrospective study reviewed cancer patients at the American University of Beirut Medical Centre, comparing outcomes between those who received NGS-based treatment adjustments (NBTAs) and those who did not. The study enrolled 180 patients, including those with non-small-cell lung cancer (21.2%), sarcomas (20%), gastrointestinal malignancies (23.3%), breast cancer (10.6%), and other cancers (24.9%); 58.3% had stage 4 cancer at diagnosis. Before molecular profiling, 20.6% had stable disease, 21.7% showed partial response, and 57.8% had progressive disease. Most (96%) had received treatment, mainly systemic (90%), with chemotherapy (89%) being the most common. Forty patients (22.2%) underwent NGS-based treatment adjustments (NBTAs). Post-NGS, targeted therapies increased from 35% to 43% and immunotherapies from 14% to 18%. Mutations were detected in 98% of patients, with a median of four mutations per patient. NBTA patients had a median overall survival of 59 months, compared to 23 months for non-NBTA patients ( = 0.096), and significantly improved progression-free survival (5.32 vs. 3.28 months, = 0.023). The use of large-scale molecular profiling to guide treatment adjustments promises advancements in patient care. Integrating NGS into clinical practice correlates with improved PFS, calling for a broader adoption of its use in the MENA region.

摘要

在精准医学时代,下一代测序(NGS)已成为识别可靶向突变和定制治疗方案的重要工具。然而,中东和北非(MENA)地区在采用这项技术方面滞后。本研究旨在证明该地区分子谱分析的变革潜力。这项回顾性研究对贝鲁特美国大学医疗中心的癌症患者进行了评估,比较了接受基于NGS的治疗调整(NBTA)的患者和未接受该治疗的患者的治疗结果。该研究共纳入180例患者,包括非小细胞肺癌患者(21.2%)、肉瘤患者(20%)、胃肠道恶性肿瘤患者(23.3%)、乳腺癌患者(10.6%)和其他癌症患者(24.9%);58.3%的患者在诊断时处于癌症4期。在进行分子谱分析之前,20.6%的患者病情稳定,21.7%的患者部分缓解,57.8%的患者病情进展。大多数患者(96%)接受过治疗,主要是全身治疗(90%),其中化疗(89%)最为常见。40例患者(22.2%)接受了基于NGS的治疗调整(NBTA)。进行NGS检测后,靶向治疗的比例从35%增至43%,免疫治疗的比例从14%增至18%。98%的患者检测到了突变,每位患者的突变中位数为4个。接受NBTA治疗的患者的总生存期中位数为59个月,而未接受NBTA治疗的患者为23个月( = 0.096),且无进展生存期显著改善(5.32个月对3.28个月, = 0.023)。利用大规模分子谱分析来指导治疗调整有望推动患者护理的进步。将NGS整合到临床实践中与改善无进展生存期相关,这呼吁在中东和北非地区更广泛地采用该技术。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88df/12110402/17a71de3c5d3/diagnostics-15-01183-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88df/12110402/ae733aaa3944/diagnostics-15-01183-g001.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88df/12110402/17a71de3c5d3/diagnostics-15-01183-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88df/12110402/ae733aaa3944/diagnostics-15-01183-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88df/12110402/5d179edea2f6/diagnostics-15-01183-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88df/12110402/bec4034a2e00/diagnostics-15-01183-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88df/12110402/9e0f8ff96dc0/diagnostics-15-01183-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88df/12110402/17a71de3c5d3/diagnostics-15-01183-g005.jpg

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