Suppr超能文献

一例携带TP53突变和PLPP5-FGFR1融合基因的肺鳞状细胞癌病例

A Case of Lung Squamous Cell Carcinoma Harboring TP53 Mutation and PLPP5-FGFR1 Fusion Gene.

作者信息

Xiao-Ru Meng, Xiao-Xiong Shi, Qian Gao, Ya-Jing Qu, Li-Li Huo, Yan-Yan Gao, Peng-Peng Xu, Guan-Nan Ma, Gui-Bing Ren

机构信息

Oncology Department, Characteristic Medical Center of Chinese People's Armed Police Force, Tianjin, China.

Medical Research Center Key Laboratory of Digital Technology in Medical Diagnostics of Zhejiang Province, Hangzhou, China.

出版信息

Clin Respir J. 2025 Apr;19(4):e70074. doi: 10.1111/crj.70074.

Abstract

Lung squamous cell carcinoma (LUSC) is one of the most common subtype of lung cancer and is associated with the poor prognoses. The fibroblast growth factor receptor (FGFR) family is known to be activated through fusions with various partners across multiple cancer types, including nonsmall cell lung cancer (NSCLC). FGFR inhibitors are currently undergoing clinical evaluation for the treatment of tumors harboring these fusions. While FGFR1 amplification has been well-documented in numerous NSCLC datasets, the characterization of specific FGFR fusion variants remains limited. In this study, we identified a novel PLPP5-FGFR1 fusion in a 65-year-old male patient with lung squamous cell carcinoma through targeted RNA sequencing. The fusion junction was located between exon 1 of PLPP5 and exon 5 of FGFR1, and the result was validated by Sanger sequencing. To our knowledge, this is the first reported case of a PLPP5-FGFR1 fusion coexisting with a TP53 mutation in LUSC. These findings broaden the spectrum of potential translocation partners in FGFR1 fusions, and the clinical implications of this novel fusion on treatment outcomes and prognosis warrant further investigation and long-term follow-up.

摘要

肺鳞状细胞癌(LUSC)是肺癌最常见的亚型之一,且预后较差。已知成纤维细胞生长因子受体(FGFR)家族在包括非小细胞肺癌(NSCLC)在内的多种癌症类型中通过与各种伙伴融合而被激活。FGFR抑制剂目前正在进行临床试验,用于治疗携带这些融合的肿瘤。虽然FGFR1扩增在众多NSCLC数据集中已有充分记录,但特定FGFR融合变体的特征描述仍然有限。在本研究中,我们通过靶向RNA测序在一名65岁的肺鳞状细胞癌男性患者中鉴定出一种新型的PLPP5-FGFR1融合。融合位点位于PLPP5的第1外显子和FGFR1的第5外显子之间,结果通过桑格测序得到验证。据我们所知,这是首次报道的PLPP5-FGFR1融合与LUSC中的TP53突变共存的病例。这些发现拓宽了FGFR1融合中潜在易位伙伴的范围,这种新型融合对治疗结果和预后的临床意义值得进一步研究和长期随访。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验