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23.05.2019 | Original Article

Radiogenomics in head and neck cancer: correlation of radiomic heterogeneity and somatic mutations in TP53, FAT1 and KMT2D

verfasst von: Kerstin Zwirner, M.D., Franz J. Hilke, German Demidov, Jairo Socarras Fernandez, Stephan Ossowski, Cihan Gani, Daniela Thorwarth, Olaf Riess, Daniel Zips, Christopher Schroeder, Stefan Welz

Erschienen in: Strahlentherapie und Onkologie | Ausgabe 9/2019

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Abstract

Purpose

Genetic tumour profiles and radiomic features can be used to complement clinical information in head and neck squamous cell carcinoma (HNSCC) patients. Radiogenomics imply the potential to investigate complementarity or interrelations of radiomic and genomic features, and prognostic factors might be determined. The aim of our study was to explore radiogenomics in HNSCC.

Methods

For 20 HNSCC patients treated with primary radiochemotherapy, next-generation sequencing (NGS) of tumour and corresponding normal tissue was performed. In total, 327 genes were investigated by panel sequencing. Radiomic features were extracted from computed tomography data. A hypothesis-driven approach was used for radiogenomic correlations of selected image-based heterogeneity features and well-known driver gene mutations in HNSCC.

Results

The most frequently mutated driver genes in our cohort were TP53 (involved in cell cycle control), FAT1 (Wnt signalling, cell–cell contacts, migration) and KMT2D (chromatin modification). Radiomic features of heterogeneity did not correlate significantly with somatic mutations in TP53 or KMT2D. However, somatic mutations in FAT1 and smaller primary tumour volumes were associated with reduced radiomic intra-tumour heterogeneity.

Conclusion

The landscape of somatic variants in our cohort is well in line with previous reports. An association of somatic mutations in FAT1 with reduced radiomic tumour heterogeneity could potentially elucidate the previously described favourable outcomes of these patients. Larger studies are needed to validate this exploratory data in the future.

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Titel: Radiogenomics in head and neck cancer: correlation of radiomic heterogeneity and somatic mutations in TP53, FAT1 and KMT2D
verfasst von: Kerstin Zwirner, M.D.
Franz J. Hilke
German Demidov
Jairo Socarras Fernandez
Stephan Ossowski
Cihan Gani
Daniela Thorwarth
Olaf Riess
Daniel Zips
Christopher Schroeder
Stefan Welz
Publikationsdatum: 23.05.2019
Verlag: Springer Berlin Heidelberg
Erschienen in: Strahlentherapie und Onkologie / Ausgabe 9/2019
Print ISSN: 0179-7158
Elektronische ISSN: 1439-099X
DOI: https://doi.org/10.1007/s00066-019-01478-x

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Radiogenomics in head and neck cancer: correlation of radiomic heterogeneity and somatic mutations in TP53, FAT1 and KMT2D