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

TL;DR

This study reports a new PLPP5-FGFR1 fusion gene in a lung squamous cell carcinoma patient with a TP53 mutation, expanding potential treatment options.

Contribution

The study identifies the first reported case of a PLPP5-FGFR1 fusion coexisting with a TP53 mutation in lung squamous cell carcinoma.

Findings

A novel PLPP5-FGFR1 fusion was identified in a LUSC patient through RNA sequencing.

The fusion was validated by Sanger sequencing and is the first of its kind in LUSC.

The fusion coexists with a TP53 mutation, suggesting potential clinical implications for treatment and prognosis.

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.

Lung squamous cell carcinoma (LUSC) is a common cancer with poor prognosis. FGFR fusions, including in nonsmall cell lung cancer (NSCLC), are targeted by FGFR inhibitors. This study reports a novel PLPP5‐FGFR1 fusion in a 65‐year‐old LUSC patient, coexisting with a TP53 mutation. These findings expand FGFR fusion possibilities and highlight the need for further clinical investigation into treatment and prognosis impacts.

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