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Hallmarks of a genomically distinct subclass of head and neck cancer

Author

Listed:
  • Tara Muijlwijk

    (location Vrije Universiteit Amsterdam, Otolaryngology / Head and Neck Surgery
    Cancer Biology and Immunology
    Cancer Immunology)

  • Irene H. Nauta

    (location Vrije Universiteit Amsterdam, Otolaryngology / Head and Neck Surgery
    Cancer Biology and Immunology)

  • Anabel Lee

    (location Vrije Universiteit Amsterdam, Otolaryngology / Head and Neck Surgery
    Cancer Biology and Immunology
    Cancer Immunology)

  • Kari J. T. Grünewald

    (location Vrije Universiteit Amsterdam, Otolaryngology / Head and Neck Surgery
    Cancer Biology and Immunology)

  • Arjen Brink

    (location Vrije Universiteit Amsterdam, Otolaryngology / Head and Neck Surgery
    Cancer Biology and Immunology)

  • Sonja H. Ganzevles

    (location Vrije Universiteit Amsterdam, Otolaryngology / Head and Neck Surgery
    Cancer Biology and Immunology
    Cancer Immunology)

  • Robert J. Baatenburg de Jong

    (Otorhinolaryngology / Head and Neck Surgery)

  • Lilit Atanesyan

    (Oncogenetics)

  • Suvi Savola

    (Oncogenetics)

  • Mark A. Wiel

    (Amsterdam Public Health Research Institute)

  • Laura A. N. Peferoen

    (Cancer Biology and Immunology
    location Vrije Universiteit Amsterdam, Pathology
    Maxillofacial Surgery/ Oral Pathology)

  • Elisabeth Bloemena

    (Cancer Biology and Immunology
    location Vrije Universiteit Amsterdam, Pathology
    Maxillofacial Surgery/ Oral Pathology)

  • Rieneke Ven

    (location Vrije Universiteit Amsterdam, Otolaryngology / Head and Neck Surgery
    Cancer Biology and Immunology
    Cancer Immunology)

  • C. René Leemans

    (location Vrije Universiteit Amsterdam, Otolaryngology / Head and Neck Surgery
    Cancer Biology and Immunology)

  • Jos B. Poell

    (location Vrije Universiteit Amsterdam, Otolaryngology / Head and Neck Surgery
    Cancer Biology and Immunology)

  • Ruud H. Brakenhoff

    (location Vrije Universiteit Amsterdam, Otolaryngology / Head and Neck Surgery
    Cancer Biology and Immunology)

Abstract

Cancer is caused by an accumulation of somatic mutations and copy number alterations (CNAs). Besides mutations, these copy number changes are key characteristics of cancer development. Nonetheless, some tumors show hardly any CNAs, a remarkable phenomenon in oncogenesis. Head and neck squamous cell carcinomas (HNSCCs) arise by either exposure to carcinogens, or infection with the human papillomavirus (HPV). HPV-negative HNSCCs are generally characterized by many CNAs and frequent mutations in CDKN2A, TP53, FAT1, and NOTCH1. Here, we present the hallmarks of the distinct subgroup of HPV-negative HNSCC with no or few CNAs (CNA-quiet) by genetic profiling of 802 oral cavity squamous cell carcinomas (OCSCCs). In total, 73 OCSCC (9.1%) are classified as CNA-quiet and 729 as CNA-other. The CNA-quiet group is characterized by wild-type TP53, frequent CASP8 and HRAS mutations, and a less immunosuppressed tumor immune microenvironment with lower density of regulatory T cells. Patients with CNA-quiet OCSCC are older, more often women, less frequently current smokers, and have a better 5-year overall survival compared to CNA-other OCSCC. This study demonstrates that CNA-quiet OCSCC should be considered as a distinct, clinically relevant subclass. Given the clinical characteristics, the patient group with these tumors will rapidly increase in the aging population.

Suggested Citation

  • Tara Muijlwijk & Irene H. Nauta & Anabel Lee & Kari J. T. Grünewald & Arjen Brink & Sonja H. Ganzevles & Robert J. Baatenburg de Jong & Lilit Atanesyan & Suvi Savola & Mark A. Wiel & Laura A. N. Pefer, 2024. "Hallmarks of a genomically distinct subclass of head and neck cancer," Nature Communications, Nature, vol. 15(1), pages 1-18, December.
  • Handle: RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-024-53390-3
    DOI: 10.1038/s41467-024-53390-3
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    References listed on IDEAS

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