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Updated: May 11, 2026

Robust Detection of Gene Amplification in Formalin-Fixed Paraffin-Embedded Samples by Fluorescence In Situ Hybridization
Published on: July 12, 2024
Fibroblast growth factor receptor 1 amplification is a common event in squamous cell carcinoma of the head and neck
Friederike Göke1, Maike Bode, Alina Franzen
11] Institute of Pathology, University of Bonn, Bonn, Germany [2] Department of Prostate Cancer Research, University of Bonn, Bonn, Germany.
Abstract:
Recently, we characterized fibroblast growth factor receptor 1 amplification as a target for a rational therapy in lung squamous cell carcinoma. Patients harboring this genetic event are currently eligible for treatment with antifibroblast growth factor receptor small-molecule inhibitors in phase I clinical trials. This has the potential to significantly improve standard therapy for lung squamous cell carcinoma patients. The aim of this study was to elucidate whether fibroblast growth factor receptor 1 amplification is also a common genetic event in head and neck squamous cell carcinoma. For this purpose, we assembled a cohort of 555 patients, including 264 with metastatic disease and 147 with recurrent disease. Formalin-fixed, paraffin-embedded material of primary tumors, metastases and recurrences were assessed for fibroblast growth factor receptor 1 copy number status using fluorescence in situ hybridization. Human papilloma virus status was detected by p16 immunohistochemistry staining and PCR-ELISA. Molecular parameters were correlated with each other and with clinicopathological data. We found 15% of primary head and neck squamous cell carcinoma to display a fibroblast growth factor receptor 1 amplification. In nearly all cases, metastatic and recurrent tumor samples shared the same amplification status as the corresponding primary tumor. Fibroblast growth factor receptor 1 amplification was associated with nicotine and alcohol consumption, but was mutually exclusive with human papilloma virus infection. Amplification of the gene was associated with parameters of worse outcome. Our data identify fibroblast growth factor receptor 1 amplification as a frequent event in primary and metastatic head and neck squamous cell carcinoma and represents a potential biomarker for more aggressive disease. Fibroblast growth factor receptor 1-amplified tumors could potentially comprise a subset of head and neck squamous cell carcinoma against which targeted small-molecule inhibitors hold therapeutic efficacy.
Insights
Fibroblast growth factor receptor 1 (FGFR1) amplification occurs in 15% of head and neck squamous cell carcinoma. This genetic event, linked to worse outcomes, may indicate a target for new therapies.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Fibroblast growth factor receptor 1 (FGFR1) amplification is a targetable event in lung squamous cell carcinoma.
- Patients with FGFR1 amplification are eligible for clinical trials with small-molecule inhibitors.
Purpose of the Study:
- To investigate the frequency of FGFR1 amplification in head and neck squamous cell carcinoma (HNSCC).
- To correlate FGFR1 amplification with clinicopathological features and human papilloma virus (HPV) status in HNSCC.
Main Methods:
- Assessed FGFR1 copy number status in 555 HNSCC patients (primary, metastatic, recurrent) using fluorescence in situ hybridization.
- Determined HPV status via p16 immunohistochemistry and PCR-ELISA.
- Correlated molecular parameters with clinicopathological data.
Main Results:
- FGFR1 amplification was found in 15% of primary HNSCC.
- Amplification status remained consistent between primary, metastatic, and recurrent tumors.
- FGFR1 amplification was associated with nicotine/alcohol consumption, worse outcomes, and was mutually exclusive with HPV infection.
Conclusions:
- FGFR1 amplification is a frequent event in HNSCC, serving as a potential biomarker for aggressive disease.
- FGFR1-amplified HNSCC may represent a subset responsive to targeted small-molecule inhibitors.
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