肺肉瘤样癌中非经典 MET 外显子 14 剪接位点变异对卡马替尼治疗应答

A Noncanonical MET Exon 14 Splice-Site Variant in Pulmonary Sarcomatoid Carcinoma With Response to Capmatinib.

期刊: Thoracic Cancer
PMID: 42568042
原文: PubMed ↗
发布日期: 2026-08-08

作者

Hyung-Joo Oh — Division of Pulmonology, Department of Internal Medicine, Chonnam National University Medical School, Gwangju, South Korea.
Yoo-Duk Choi — Lung Cancer Center, Chonnam National University Hwasun Hospital, Gwangju, South Korea.
Yoon-La Choi — Department of Pathology & Translational Genomics, Samsung Medical Center, Sungkyungwan University School of Medicine, Seoul, South Korea.
Ha-Young Park — Division of Pulmonology, Department of Internal Medicine, Chonnam National University Medical School, Gwangju, South Korea.
Joon-Young Yoon — Division of Pulmonology, Department of Internal Medicine, Chonnam National University Medical School, Gwangju, South Korea.
Jang-Hyeon Kim — Division of Pulmonology, Department of Internal Medicine, Chonnam National University Medical School, Gwangju, South Korea.
Jung-Hwan Lim — Division of Pulmonology, Department of Internal Medicine, Chonnam National University Medical School, Gwangju, South Korea.
Cheol-Kyu Park — Division of Pulmonology, Department of Internal Medicine, Chonnam National University Medical School, Gwangju, South Korea.
In-Jae Oh — Division of Pulmonology, Department of Internal Medicine, Chonnam National University Medical School, Gwangju, South Korea.
Young-Chul Kim — Division of Pulmonology, Department of Internal Medicine, Chonnam National University Medical School, Gwangju, South Korea.

作者单位

Division of Pulmonology, Department of Internal Medicine, Chonnam National University Medical School, Gwangju, South Korea.
Lung Cancer Center, Chonnam National University Hwasun Hospital, Gwangju, South Korea.
Department of Pathology & Translational Genomics, Samsung Medical Center, Sungkyungwan University School of Medicine, Seoul, South Korea.

摘要

中文

MET 外显子 14 跳跃是非小细胞肺癌（NSCLC）中一个可行的致癌驱动因子；然而，非经典剪接区域变异常被归类为意义未明的变异（VUS），这可能导致错过治疗机会，并凸显当前 DNA 下一代测序（NGS）报告标准的局限性。我们报告一例携带非经典 MET 剪接供体近端插入缺失（c.3022_3028+13delinsA）的肺肉瘤样癌患者，该变异最初被解读为 VUS，患者对卡马替尼治疗产生了快速且持久的应答。随后的 RNA 测序和微滴式数字 PCR（ddPCR）证实了 MET 外显子 14 跳跃，支持对邻近外显子变异进行正交转录本水平验证的价值。

English

MET exon 14 skipping is an actionable oncogenic driver in non-small cell lung carcinoma (NSCLC); however, noncanonical splice-region variants are frequently classified as variants of unknown significance (VUS), which may result in missed therapeutic opportunities and highlight limitations in current DNA next-generation sequencing (NGS) reporting criteria. We report a patient with pulmonary sarcomatoid carcinoma harboring a noncanonical MET splice donor-proximal indel (c.3022_3028 + 13delinsA), initially interpreted as a VUS, who achieved a rapid and durable response to capmatinib. Subsequent RNA sequencing and droplet digital PCR (ddPCR) confirmed MET exon 14 skipping, supporting the value of orthogonal transcript-level validation for exon-adjacent variants.

分类与指标

研究类型: 临床研究
病种: 肺癌
JCR 分区: Q2
影响因子: 2.6
新锐分区: 4区