Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient

6533b823fe1ef96bd127eda1

RESEARCH PRODUCT

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient

Martin Löwer Fulvia Vascotto ÖZlem Akilli-öztürk Anthony Kong Anthony Kong Anthony Kong David Weber Luisa Bresadola Ugur Sahin Barbara Schrörs Julia Becker Christoph Ritzel Valesca Bukur Hisham Mehanna

subject

Male 0301 basic medicine Oncology Alcohol exposure medicine.disease_cause Germline Neoplasms Multiple Primary Transcriptome Fatal Outcome 0302 clinical medicine Medicine Biology (General)Immune cell infiltration Spectroscopy synchronous multiple primary malignancies Smokers immune cell infiltration Genomics General Medicine Computer Science Applications whole exome sequencing (WES)Chemistry somatic single nucleotide variants Head and Neck Neoplasms 030220 oncology & carcinogenesis medicine.medical_specialty recurrent head and neck squamous cell carcinoma (HNSCC)Alcohol Drinking QH301-705.5 Article Catalysis Inorganic Chemistry 03 medical and health sciences Internal medicine Humans Physical and Theoretical Chemistry QD1-999 Molecular Biology Aged Neoplasm Staging business.industry Gene Expression Profiling Organic Chemistry Head and neck cancer RNA sequencing (RNA-seq)medicine.disease Head and neck squamous-cell carcinoma 030104 developmental biology germline variants Mutation Clinical value Neoplasm Recurrence Local business Carcinogenesis

description

Synchronous primary malignancies occur in a small proportion of head and neck squamous cell carcinoma (HNSCC) patients. Here, we analysed three synchronous primaries and a recurrence from one patient by comparing the genomic and transcriptomic profiles among the tumour samples and determining the recurrence origin. We found remarkable levels of heterogeneity among the primary tumours, and through the patterns of shared mutations, we traced the origin of the recurrence. Interestingly, the patient carried germline variants that might have predisposed him to carcinogenesis, together with a history of alcohol and tobacco consumption. The mutational signature analysis confirmed the impact of alcohol exposure, with Signature 16 present in all tumour samples. Characterisation of immune cell infiltration highlighted an immunosuppressive environment in all samples, which exceeded the potential activity of T cells. Studies such as the one described here have important clinical value and contribute to personalised treatment decisions for patients with synchronous primaries and matched recurrences.

year	journal	country	edition	language
2021-07-01	International Journal of Molecular Sciences

10.3390/ijms22147583 http://dx.doi.org/10.3390/ijms22147583