侵袭性黏液腺癌携带MET外显子14跳变1例。

IF 4 2区 医学 Q2 ONCOLOGY Translational lung cancer research Pub Date : 2024-11-30 Epub Date: 2024-11-12 DOI:10.21037/tlcr-24-449
Atsushi Washioka, Hiroaki Akamatsu, Takeya Sugimoto, Daiki Kitahara, Takahiro Kaki, Eriko Murakami, Atsushi Hayata, Ryuta Iwamoto, Nobuyuki Yamamoto
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引用次数: 0

摘要

背景:肺粘液腺癌有多种基因改变,但没有报道MET外显子14跳变的病例。多重基因检测通常在非小细胞肺癌(NSCLC)中进行评估,治疗通常包括分子靶向药物。然而,分子靶向药物治疗肺黏液腺癌的疗效尚未见报道。在这里,我们报告了替波替尼在侵袭性黏液腺癌(IMA)中携带MET外显子14跳变的临床特征。病例描述:一名68岁的日本妇女被诊断为IMA,携带MET外显子14跳变。针对社区获得性肺炎或隐源性组织性肺炎的初始治疗无效。血癌胚抗原升高,正电子发射断层扫描显示浸润部位摄取18f -氟脱氧葡萄糖。第二次经支气管肺活检诊断为含有MET外显子14跳变的IMA。替波替尼500 mg每日一次作为患者的一线治疗开始,她在治疗期间表现出持久的反应和轻微的不良事件。结论:分子靶向药物(替波替尼)对携带MET外显子14跳跃突变的IMA的疗效与用于非小细胞肺癌的疗效相似。本病例提示对IMA患者进行积极的多重基因检测和随后的分子靶向药物治疗的益处。
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Invasive mucinous adenocarcinoma harbored MET exon 14 skipping mutation: case report.

Background: Lung mucinous adenocarcinoma has various genetic alterations, but there are no reported cases with MET exon 14 skipping mutations. Multiplex genetic testing is commonly assessed in non-small cell lung cancer (NSCLC) and treatment usually comprises molecular targeted drugs. However, the efficacy of molecular targeted drugs in lung mucinous adenocarcinoma is not reported. Here, we report on the clinical features of tepotinib in invasive mucinous adenocarcinoma (IMA) harboring MET exon 14 skipping mutation.

Case description: A 68-year-old Japanese woman was diagnosed with IMA that harbored MET exon 14 skipping mutation. Initial treatment targeting community-acquired pneumonia or cryptogenic organizing pneumonia was ineffective. Blood carcinoembryonic antigen had increased, and positron emission tomography showed uptake of 18F-fluorodeoxyglucose on the infiltration. A second trans-bronchial lung biopsy allowed diagnosis of IMA that harbored MET exon 14 skipping mutation. Tepotinib 500 mg once daily was initiated as the patient's first-line treatment and she showed a durable response with mild adverse events during treatment.

Conclusions: Molecular targeted drugs (tepotinib) showed similar efficacy for IMA harboring MET exon 14 skipping mutation to their use for NSCLC. This case suggests the benefit of aggressive multiplex genetic testing in patients with IMA and subsequent treatment with molecular targeted drugs.

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来源期刊
CiteScore
7.20
自引率
2.50%
发文量
137
期刊介绍: Translational Lung Cancer Research(TLCR, Transl Lung Cancer Res, Print ISSN 2218-6751; Online ISSN 2226-4477) is an international, peer-reviewed, open-access journal, which was founded in March 2012. TLCR is indexed by PubMed/PubMed Central and the Chemical Abstracts Service (CAS) Databases. It is published quarterly the first year, and published bimonthly since February 2013. It provides practical up-to-date information on prevention, early detection, diagnosis, and treatment of lung cancer. Specific areas of its interest include, but not limited to, multimodality therapy, markers, imaging, tumor biology, pathology, chemoprevention, and technical advances related to lung cancer.
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