全面基因组分析（CGP）已经被用于检测可应用基因异常并设计相应治疗方法。虽然恶性胸部肿瘤通常通过呼吸道内窥镜检测，但对于使用这种方法采集的小样本是否足够CGP尚存在疑问。因此，本研究旨在调查呼吸道内窥镜采样原发性和转移性胸部肿瘤用于CGP的适宜性。回顾性地检查了于2019年6月至2022年5月期间，我们机构内通过呼吸道内窥镜采集标本，并由病理医生评估其适用于CGP的患者。评估了每种操作作为CGP采样技术的适用性，以及在实际分析的情况下，检测到的基因异常的分布情况。总共，122名患者符合分析条件，其中年龄中位数为61岁（范围29-86岁），男性患者71例（58.2%）。91例（74.6%）病例中发现原发性胸部肿瘤，包括84例（68.9%）原发性肺癌；其余胸部转移来源于不同类型的胸外肿瘤。采用常规支气管镜含活体冷冻切片、内支气管超声引导经支气管针吸穿刺和医学胸腔镜获得的样本适用率分别为82.8%（24/29）、70.4%（19/27）、72.9%（35/48）和100%（18/18）。在96例被判为适用的病例中，83例进行了CGP分析，其中除一例外，都成功完成了分析。最终，47名患者（56.6%）至少存在一种可应用的基因异常，有8名患者（9.6%）接受了相应的靶向治疗。总之，通过呼吸道内窥镜获得的样本适合进行CGP；医学胸腔镜和常规支气管镜中的活体冷冻切片特别有用。©2023 The Authors. Cancer Science published by John Wiley & Sons Australia, Ltd on behalf of Japanese Cancer Association.

Comprehensive genomic profiling (CGP) is implemented to detect actionable gene aberrations and design matched therapies. Although malignant thoracic tumors are commonly detected through respiratory endoscopy, it is questionable whether the small specimens obtained thereof are sufficient for CGP. Therefore, this study aimed to investigate the suitability of respiratory endoscopy for sampling primary and metastatic thoracic tumors for CGP. Patients whose specimens were collected through respiratory endoscopy and assessed by pathologists to determine their suitability for CGP at our institution between June 2019 and May 2022 were reviewed retrospectively. The suitability of each procedure as a sampling technique for CGP and, in the cases actually analyzed, the distribution of the detected gene aberration were assessed. In total, 122 patients were eligible for analysis; the median age was 61 (range, 29-86) years, and 71 (58.2%) patients were male. Primary intrathoracic tumors were found in 91 (74.6%) cases, including 84 (68.9%) primary lung cancers; the remaining thoracic metastases of extrathoracic origin included various types. The suitability rates of specimens obtained using conventional bronchoscopy with and without cryobiopsy, endobronchial ultrasound-guided transbronchial needle aspiration, and medical thoracoscopy were 82.8% (24/29), 70.4% (19/27), 72.9% (35/48), and 100% (18/18), respectively. Of the 96 cases judged suitable, 83 were subjected to CGP, and all but one were successfully analyzed. Finally, 47 (56.6%) patients had at least one actionable gene aberration and eight (9.6%) were treated with the corresponding targeted therapies. In conclusion, specimens obtained through respiratory endoscopy are suitable for CGP; medical thoracoscopy and cryobiopsy in conventional bronchoscopy are particularly useful.© 2023 The Authors. Cancer Science published by John Wiley & Sons Australia, Ltd on behalf of Japanese Cancer Association.