Comprehensive genomic and transcriptomic analysis of three synchronous primary tumours and a recurrence from a head and neck cancer patient

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  • Luisa Bresadola
  • David Weber
  • Christoph Ritzel
  • Martin Lower
  • Valesca Bukur
  • Özlem Akilli-Öztürk
  • Julia Becke
  • Barbara Schrörs
  • Fulvia Vascotto
  • Ugur Sahin
  • Anthony Kong


Synchronous primary malignancies occur in a small proportion of head and neck squamous cell carcinoma 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 which might have predisposed him to carcinogenesis, together with a history of alcohol and tobacco consumption. 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.


Original languageEnglish
Article number7583
Number of pages17
JournalInternational Journal of Molecular Sciences
Issue number14
Publication statusPublished - 15 Jul 2021


  • synchronous multiple primary malignancies, recurrent head and neck squamous cell carcinoma (HNSCC); somatic single nucleotide variants, germline variants, immune cell infiltration, whole exome sequencing (WES), RNA sequencing (RNA-seq)

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