Gros Louis, Yip Rowena, Golombeck Arel, Yankelevitz David F, Henschke Claudia I
Department of Radiology, Icahn School of Medicine at Mount Sinai, New York, New York.
JTO Clin Res Rep. 2024 Dec 11;6(2):100777. doi: 10.1016/j.jtocrr.2024.100777. eCollection 2025 Feb.
Limited information exists on next-generation sequencing (NGS) success for lung tumors of 30 mm or less. We aimed to compare NGS success rates across biopsy techniques for these tumors, assess DNA sequencing quality, and verify reliability against surgical resection results.
We used data from the Initiative for Early Lung Cancer Research on Treatment study, including patients with lung tumors measuring 30 mm or less who had surgery and NGS on biopsies since 2016. We collected data on biopsy type, nodule characteristics, complications, sequencing feasibility, clinical actionable variants, surgery type, and TNM classification. We compared NGS feasibility and quality between biopsy methods and, for those with NGS on surgical samples, compared feasibility, quality, and detection of actionable variants.
Among the 654 participants with lung tumors of 30 mm or less who underwent surgery, 70 had NGS on prior biopsies. The median age was 68.5; 51.4% were male individuals, and 75.7% were smokers. The mean diameter of biopsied nodules was 17.7 mm, with 67.1% fine-needle aspiration, 17.1% computed tomography-guided transthoracic core needle biopsies, and 17.1% endobronchial ultrasound-guided transbronchial needle aspiration. DNA sequencing was feasible in 97.1% of biopsy samples; 2.9% had low tumor cellularity. Coverage depth was achieved in 89.7% of biopsies. RNA sequencing was successful in 66.2% of biopsies, especially in core needle biopsies. Actionable alterations were found in 41.4% of patients. Among the participants, 30% had NGS on surgical samples. RNA sequencing was more feasible on surgical samples (95.2% versus 42.9% for biopsies). NGS on surgical samples matched biopsy results in 90% of patients, with 10% showing additional alterations.
DNA sequencing succeeded in 97.1% of biopsies of nodules 30 mm or less, whereas RNA sequencing feasibility was lower. NGS on biopsy samples is generally reliable but requires careful review.
关于30毫米及以下肺肿瘤的下一代测序（NGS）成功率的信息有限。我们旨在比较这些肿瘤在不同活检技术下的NGS成功率，评估DNA测序质量，并对照手术切除结果验证其可靠性。
我们使用了早期肺癌研究与治疗倡议研究的数据，包括自2016年以来患有30毫米及以下肺肿瘤且接受了手术及活检NGS的患者。我们收集了活检类型、结节特征、并发症、测序可行性、临床可操作变异、手术类型和TNM分类的数据。我们比较了活检方法之间的NGS可行性和质量，对于那些手术样本进行了NGS的患者，比较了可行性、质量和可操作变异的检测情况。
在654例接受手术的30毫米及以下肺肿瘤患者中，70例之前的活检进行了NGS。中位年龄为68.5岁；51.4%为男性，75.7%为吸烟者。活检结节的平均直径为17.7毫米，其中67.1%为细针穿刺抽吸，17.1%为计算机断层扫描引导下经胸芯针活检，17.1%为支气管内超声引导下经支气管针吸活检。97.1%的活检样本可行DNA测序；2.9%的样本肿瘤细胞含量低。89.7%的活检达到了覆盖深度。66.2%的活检RNA测序成功，尤其是在芯针活检中。41.4%的患者发现了可操作的改变。在参与者中，30%的患者手术样本进行了NGS。手术样本的RNA测序更可行（活检为42.9%，手术样本为95.2%）。90%的患者手术样本的NGS与活检结果相符，10%的患者显示有额外的改变。
30毫米及以下结节活检的DNA测序成功率为97.1%，而RNA测序的可行性较低。活检样本的NGS通常可靠，但需要仔细审查。
