在日本实体瘤中NRG1融合的流行率和分子格局:使用C-CAT数据库进行全国数据分析
Masaki Ishida1, Tadaaki Yamada2, Ryo Tsunashima3
1Department of Pulmonary Medicine, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465, Kajii-cho, Kamigyo-ku, Kyoto 602-8566, Japan; Department of Cancer Genome Medical Center, Kyoto Prefectural University of Medicine, Kajii-cho, Kamigyo-ku, Kyoto, Japan.
Lung cancer (Amsterdam, Netherlands)
|November 16, 2025
概括
神经调节素1 (NRG1) 基因融合是罕见的致癌驱动因素,主要在肺癌中发现. CD74基因是这些NRG1融合阳性先进固体瘤中最常见的融合伙伴.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 分子生物学分子生物学
背景情况:
- 神经调节蛋白1 (NRG1) 基因融合是各种固体瘤中ERBB通路激活的关键驱动因素.
- 了解NRG1融合阳性癌症的流行病学和临床基因组学对于推进向治疗至关重要.
研究的目的:
- 调查日本患者中NRG1融合的发病率和临床基因组学情景,这些患者患有晚期固体瘤.
- 确定NRG1融合阳性癌症中常见的融合伙伴和同时发生的基因组变异.
主要方法:
- 来自日本数据库 (2019年6月至2025年2月) 的95,149名晚期实体瘤患者的回顾性分析.
- 综合性基因组分析,以确定NRG1的融合,融合伙伴和同时发生的改变.
- 评估瘤突变负担,微卫星不稳定性和临床特征.
主要成果:
- 在95149名患者中,NRG1融合在29名 (0.03%) 患者中被发现,主要是肺癌 (0.30%).
- 在NRG1融合的肺癌中,CD74是最常见的融合伙伴 (82.4%).
- 同时发生的CDKN2A,CDKN2B和MTAP的变化很常见 (69.0%),粘膜腺癌在17.6%的肺癌中被发现.
结论:
- NRG1融合是罕见的,但与肺癌有显著的关联,通常涉及CD74融合伙伴.
- 这项全国性的研究提供了对日本患有高级固体瘤的患者NRG1融合的最广泛的分析.
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