Department of Medical Oncology, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, No. 1 DaHua Road, Beijing, 100730, China.
Department of Minimally Invasive Tumor Therapies Center, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, China.
World J Surg Oncol. 2023 Aug 16;21(1):246. doi: 10.1186/s12957-023-03129-z.
NRG1 fusions are rare oncogenic drivers in solid tumors, and the incidence of NRG1 fusions in non-small cell lung cancer (NSCLC) was 0.26%. It is essential to explore potential therapeutic strategies and efficacy predictors for NRG1 fusion-positive cancers.
We report an advanced lung adenocarcinoma patient harboring a novel NPTN-NRG1 fusion identified by RNA-based next-generation sequencing (NGS), which was not detected by DNA-based NGS at initial diagnosis. Transcriptomics data of the tissue biopsy showed NRG1α isoform accounted for 30% of total NRG1 reads, and NRG1β isoform was undetectable. The patient received afatinib as fourth-line treatment and received a progression-free survival (PFS) of 14 months.
This report supports afatinib can provide potential benefit for NRG1 fusion patients, and RNA-based NGS is an accurate and cost-effective strategy for fusion detection and isoform identification.
NRG1 融合是实体瘤中罕见的致癌驱动基因，非小细胞肺癌（NSCLC）中 NRG1 融合的发生率为 0.26%。探索 NRG1 融合阳性癌症的潜在治疗策略和疗效预测因子至关重要。
我们报告了一例晚期肺腺癌患者，该患者通过基于 RNA 的下一代测序（NGS）鉴定出一种新型 NPTN-NRG1 融合，而在初始诊断时基于 DNA 的 NGS 并未检测到该融合。组织活检的转录组学数据显示 NRG1α 异构体占总 NRG1 读数的 30%，NRG1β 异构体不可检测。该患者接受阿法替尼作为四线治疗，无进展生存期（PFS）为 14 个月。
本报告支持阿法替尼可为 NRG1 融合患者提供潜在获益，并且基于 RNA 的 NGS 是一种用于融合检测和异构体鉴定的准确且具有成本效益的策略。
