Department of Respiratory Medicine, Hiroshima Prefectural Hospital, 1-5-54 Ujina-kanda, Minami-ku, Hiroshima, Hiroshima, 7348530, Japan.
Department of Genomic Medicine, Hiroshima Prefectural Hospital, 1-5-54 Ujina-kanda, Minami-ku, Hiroshima, Hiroshima, 7348530, Japan.
Respir Investig. 2023 Nov;61(6):746-754. doi: 10.1016/j.resinv.2023.08.005. Epub 2023 Sep 13.
Few studies have been conducted on comprehensive genomic profiling (CGP) panels in Japanese patients with thoracic malignancies after completing standard treatment. Consequently, its value in clinical practice remains unclear.
We conducted a retrospective study of Japanese patients with thoracic malignancies who underwent CGP between June 2019 and November 2022 at our hospital. We evaluated the detection rate of actionable genetic alterations and percentage of patients who received genomically-matched therapy. Furthermore, we examined the value of the CGP panel in patients who underwent multiplex gene-panel testing prior to their initial treatment. This study was performed in accordance with the principles of the Declaration of Helsinki.
The study included 56 patients, of whom 47 (83.9%) had actionable genetic alterations and 8 (14.3%) received genomically-matched therapy. Of these, four patients were treated with approved drugs and three patients were treated with investigational agents. In addition, one patient was treated with approved drugs using the patient-directed care system. Of the 17 patients who had multiplex gene-panel testing performed at the start of their initial therapy, two (11.8%) were newly identified by the CGP panel and subsequently received genomically-matched therapy. EGFR L718Q and MET amplification were observed in two of the seven patients with epidermal growth factor receptor-tyrosine kinase inhibitor resistance.
The CGP panel could identify genetic alterations, thereby facilitating genomically-matched therapy, even in patients with thoracic malignancies who could not be identified using multiplex gene-panel testing.
在完成标准治疗后,针对日本胸部长瘤患者进行全面基因组分析(CGP)面板的研究较少,因此其在临床实践中的价值尚不清楚。
我们对 2019 年 6 月至 2022 年 11 月在我院接受 CGP 的日本胸部长瘤患者进行了回顾性研究。我们评估了可操作遗传改变的检出率和接受基因组匹配治疗的患者比例。此外,我们还研究了 CGP 面板在初始治疗前进行多重基因面板检测的患者中的价值。本研究符合《赫尔辛基宣言》的原则。
研究纳入 56 例患者,其中 47 例(83.9%)存在可操作的遗传改变,8 例(14.3%)接受了基因组匹配治疗。其中,4 例患者接受了批准药物治疗,3 例患者接受了研究药物治疗。此外,有 1 例患者使用患者指导的护理系统接受了批准药物治疗。在初始治疗开始时进行多重基因面板检测的 17 例患者中,有 2 例(11.8%)通过 CGP 面板新发现,随后接受了基因组匹配治疗。在 7 例对表皮生长因子受体酪氨酸激酶抑制剂耐药的患者中,有 2 例观察到 EGFR L718Q 和 MET 扩增。
即使在无法通过多重基因面板检测识别的胸部长瘤患者中,CGP 面板也可以识别遗传改变,从而促进基因组匹配治疗。