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罕见的融合基因阳性肺腺癌对恩曲替尼治疗有反应:病例报告

Rare Fusion Gene-Positive Lung Adenocarcinoma Showing Response to Entrectinib Treatment: A Case Study.

作者信息

Tsuda Takeshi, Takata Naoki, Hirai Takahiro, Masaki Yasuaki, Ishizawa Shin, Taniguchi Hirokazu

机构信息

Department of Respiratory Medicine, Toyama Prefectural Central Hospital, Toyama, Japan.

Department of Pathology, Toyama Prefectural Central Hospital, Toyama, Japan.

出版信息

Case Rep Oncol. 2022 Mar 31;15(1):376-381. doi: 10.1159/000524071. eCollection 2022 Jan-Apr.

Abstract

The fusion gene is a rare genomic alteration detected in nearly 1-2% of lung adenocarcinomas. The major partner genes of include , , and . Here, we report a case of fusion gene-positive lung adenocarcinoma, a rare fusion gene. The patient was a woman in her 40s who was diagnosed with advanced primary lung adenocarcinoma after a thorough examination. Initial genetic testing conducted using mediastinal lymph node biopsy specimens collected by endobronchial ultrasound-guided transbronchial needle aspiration revealed no driver gene mutations, including the fusion gene. The patient was treated with four courses of immunochemotherapy. As the disease worsened, another genetic test was conducted using FoundationOne CDx, and the fusion gene was detected. Multiple lung metastases disappeared after the administration of entrectinib; the response persisted up to a year. Adverse events of rash, dysgeusia, and peripheral edema were observed, and the patient required temporary drug interruption; however, we were able to continue entrectinib following a short-term drug interruption. This is the first report on the effectiveness of entrectinib against lung adenocarcinoma with the rare fusion gene.

摘要

融合基因是一种罕见的基因组改变,在近1%-2%的肺腺癌中被检测到。其主要伙伴基因包括 、 和 。在此,我们报告一例融合基因阳性的肺腺癌病例,这是一种罕见的融合基因。患者为一名40多岁的女性,经过全面检查后被诊断为晚期原发性肺腺癌。最初使用经支气管超声引导下经支气管针吸活检收集的纵隔淋巴结活检标本进行的基因检测未发现驱动基因突变,包括融合基因。该患者接受了四个疗程的免疫化疗。随着病情恶化,使用FoundationOne CDx进行了另一项基因检测,检测到了融合基因。给予恩曲替尼后,多处肺转移灶消失;疗效持续了一年。观察到皮疹、味觉障碍和外周水肿等不良事件,患者需要暂时中断用药;然而,在短期停药后我们能够继续使用恩曲替尼。这是关于恩曲替尼对具有罕见融合基因的肺腺癌有效性的首例报告。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d003/9035909/0fa3e60c2b70/cro-0015-0376-g01.jpg

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