Department of Radiation Oncology, Medical Faculty and University Hospital, Eberhard Karls University, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany.
Institute of Medical Genetics and Applied Genomics, Medical Faculty and University Hospital, Eberhard Karls University, Calwerstraße 7, 72076, Tübingen, Germany.
Strahlenther Onkol. 2019 Sep;195(9):771-779. doi: 10.1007/s00066-019-01478-x. Epub 2019 May 23.
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.
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.
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.
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.
基因肿瘤谱和放射组学特征可用于补充头颈部鳞状细胞癌（HNSCC）患者的临床信息。放射基因组学意味着有潜力研究放射组学和基因组特征的互补性或相互关系，并确定预后因素。本研究旨在探索 HNSCC 的放射基因组学。
对 20 例接受原发放化疗的 HNSCC 患者进行肿瘤和相应正常组织的下一代测序（NGS）。总共通过面板测序研究了 327 个基因。从 CT 数据中提取放射组学特征。采用假设驱动的方法对选定的基于图像的异质性特征和 HNSCC 中已知的驱动基因突变的放射基因组学相关性进行研究。
在我们的队列中，最常见的突变驱动基因是 TP53（参与细胞周期控制）、FAT1（Wnt 信号、细胞-细胞接触、迁移）和 KMT2D（染色质修饰）。异质性的放射组学特征与 TP53 或 KMT2D 中的体细胞突变无显著相关性。然而，FAT1 的体细胞突变和较小的原发肿瘤体积与降低的放射组学肿瘤内异质性相关。
我们队列中的体细胞变异景观与之前的报告非常吻合。FAT1 中的体细胞突变与降低的放射组学肿瘤异质性之间的关联可能阐明了这些患者先前描述的良好结果。未来需要更大的研究来验证这一探索性数据。
