Background: The recent advances in precision oncology for lung cancer treatment has focused attention on the importance of obtaining appropriate specimens for tissue diagnosis as well as comprehensive molecular profiling. CT scan-guided biopsies and bronchoscopy are currently the main procedures employed for tissue sampling. However, growing evidence suggests that ultrasound-guided biopsies may represent an effective as well as safe approach in this diagnostic area. This study explores the safety and the diagnostic yield for cancer molecular profiling in ultrasound-guided percutaneous lung lesion biopsies (US-PLLB). Methods: One hundred consecutive patients with suspected lung cancer, between January 2021 and May 2024, who had ultrasound-guided lung biopsies have been retrospectively analyzed. Molecular profiling was conducted with next-generation sequencing Genexus using Oncomine precision assay or polymerase chain reaction according to specimen quality. Qualitative immunohistochemical assay of programmed death ligand 1 (PD-L1) expression was evaluated by the Dako PD-L1 immunohistochemistry 22C3 pharmDx assay. The co-primary endpoints were the molecular diagnostic yield and the safety profile of US-guided lung biopsies. Results: From January 2021 to May 2024, 100 US-guided lung biopsies were carried out and 95 were considered for inclusion in the study. US-PLLB provided informative tissue for a histological evaluation in 93 of 95 patients with an overall diagnostic accuracy of 96.84% [Sensitivity: 92.63%; Specificity: 96.84%; PPV: 100%; NPV: 100%]. Sixty-Six patients were diagnosed with NSCLC (69.47%) and were considered for molecular diagnostic yield evaluation and PD-L1 testing. Four patients had malignant lymphoid lesions. US-PLLB was not adequate to achieve a final diagnosis in three patients (3.16%). Complete molecular profiling and PD-L1 evaluation were achieved in all patients with adenocarcinoma (molecular diagnostic yield: 100%). PD-L1 evaluation was achieved in 28 of 29 patients (96.55%) with either SCC or NOS lung cancer. The overall complication rate was 9.47% (n = 9). Six patients (6.31%) developed pneumothorax, while three patients (3.16%) suffered mild haemoptysis without desaturation. Conclusions: According to our findings, US-guided lung biopsy is a safe, minimally invasive procedure in patients with suspected lung malignancies, providing an excellent diagnostic yield for both comprehensive molecular profiling and PD-L1 testing. In addition, our results suggest that US-guided biopsy may also be an effective diagnostic approach in patients with suspected lung lymphoma.
背景：近年来，肺癌精准治疗领域的进展突显了获取适宜组织标本进行病理诊断及全面分子分型的重要性。目前，CT引导下活检和支气管镜检查是组织采样的主要手段。然而，越来越多的证据表明，超声引导下活检可能成为该诊断领域中一种有效且安全的方法。本研究旨在探讨超声引导下经皮肺病灶活检（US-PLLB）在癌症分子分型中的安全性及诊断效能。 方法：回顾性分析了2021年1月至2024年5月期间连续接受超声引导下肺活检的100例疑似肺癌患者。根据标本质量，采用基于Oncomine精准检测的Genexus二代测序或聚合酶链式反应进行分子分型。程序性死亡配体1（PD-L1）表达的定性免疫组化检测通过Dako PD-L1免疫组化22C3 pharmDx检测进行评估。共同主要终点是超声引导下肺活检的分子诊断效能和安全性。 结果：2021年1月至2024年5月期间，共进行了100例超声引导下肺活检，其中95例纳入研究分析。在95例患者中，US-PLLB为93例患者提供了可用于组织学评估的有效组织，总体诊断准确率为96.84%[敏感性：92.63%；特异性：96.84%；阳性预测值：100%；阴性预测值：100%]。66例患者被诊断为非小细胞肺癌（69.47%），并纳入分子诊断效能和PD-L1检测评估。4例患者为恶性淋巴样病变。US-PLLB未能为3例患者（3.16%）提供最终诊断。所有腺癌患者均完成了全面的分子分型和PD-L1评估（分子诊断效能：100%）。在29例鳞状细胞癌或非特指型肺癌患者中，28例（96.55%）完成了PD-L1评估。总体并发症发生率为9.47%（n=9）。6例患者（6.31%）发生气胸，3例患者（3.16%）出现轻度咯血，但无血氧饱和度下降。 结论：根据我们的研究结果，对于疑似肺部恶性肿瘤患者，超声引导下肺活检是一种安全、微创的操作，在全面分子分型和PD-L1检测方面均能提供优异的诊断效能。此外，我们的结果提示，超声引导下活检对于疑似肺淋巴瘤患者也可能是一种有效的诊断方法。
肿瘤(癌症)患者之家