"下一代测序在实体瘤常规治疗中的处方实践和临床影响 lmic 的实际经验

Adeeba Zaki, Nida E Zehra Sameer, Aqsa Sohail, Zeeshan Ansar, Munira Moosajee
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引用次数: 0

摘要

"由于新型预测性生物标记物的出现,疾病的分子特征描述对于精准医疗至关重要。目前有多种新一代测序(NGS)平台可供选择,但其费用和临床效用各不相同。即使检测到可靶向的突变,相应的药物也可能无法获得或负担不起。这项回顾性研究旨在评估 NGS 检测对实体瘤的分子谱分析和治疗意义。研究对象包括 2020 年 6 月 1 日至 2023 年 6 月 1 日期间在阿迦汗大学医院(AKUH)接受 NGS 分析的所有经组织学证实的恶性肿瘤(转移性或非转移性)患者。使用的是 Foundation One NGS 平台。从 2020 年到 2023 年,共有 192 名患者接受了 NGS 分析。大多数患者为男性(55.2%),年龄在 50 岁以上(71.9%)。NGS 最常见的适应症是原发癌不明(CUP)和肺癌,分别占 26% 和 25%,其次是结肠癌(9%)和乳腺癌(8%)。大多数患者患有转移性疾病(98.4%)。肺癌中常见的突变是表皮生长因子受体(16.3%)和 KRAS G12C(14.3%)。在未知原发性癌症、乳腺癌和结肠癌中,最常见的突变分别是BRAF(8%)、PIK3CA(18%)和KRAS(42.1%)。95%的患者进行了微卫星不稳定性(MSI)检测,其中6%为高MSI。31.8%的患者检测到了可采取行动的基因改变,但只有17.2%的患者接受了基因型匹配治疗,其中大部分是肺癌的一线治疗。我们的研究结果表明,实施 NGS 分析有助于临床决策。然而,这些结果只适用于一小部分患者。为了提高依从性和适用性,需要解决药物供应和治疗成本问题"。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
"PRESCRIBING PRACTICES AND CLINICAL IMPACT OF NEXT GENERATION SEQUENCING IN ROUTINE PRACTICE IN SOLID TUMORS REAL WORLD EXPERIENCE IN LMIC"
"Molecular characterization of disease is essential for precision medicine due to novel predictive biomarkers. Multiple next-generation sequencing (NGS) platforms are available, but their expense and clinical utility vary. Even if a targetable mutation is detected, corresponding drugs may not be available or affordable. No prior studies in Pakistan have focused on integrating NGS results into patient care to assist with therapeutic decision-making and survival outcomes. This retrospective study aimed to evaluate the molecular profiling and therapeutic implications of NGS testing across solid tumors. It included all patients with histologically proven malignancy (metastatic or non-metastatic) who had NGS analysis at Aga Khan University Hospital (AKUH) from June 1, 2020, to June 1, 2023. Foundation One was the NGS platform used. From 2020 to 2023, 192 patients underwent NGS. The majority were male (55.2%) and aged over 50 years (71.9%). The most common indications for NGS were carcinoma of unknown primary (CUP) and lung cancers, representing 26% and 25% respectively, followed by colon (9%) and breast cancers (8%). Most patients had metastatic disease (98.4%). Common mutations in lung cancer were EGFR (16.3%) and KRAS G12C (14.3%). In unknown primary, breast, and colon cancers, the most common mutations were BRAF (8%), PIK3CA (18%), and KRAS (42.1%), respectively. Microsatellite instability (MSI) testing was performed in 95% of patients, with 6% being MSI high. Actionable alterations were detected in 31.8% of patients, but only 17.2% received genotype-matched treatment, mostly as a first-line treatment for lung cancer. The primary barriers were drug availability and affordability. Our results show that the implementation of NGS analysis supports clinical decision making. However, these results were applicable to a small percentage of patients. For better compliance and applicability, drug availability and cost of treatment needs to be addressed"
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