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Comparing Genomic Landscapes of Oral and Cutaneous Squamous Cell Carcinoma of the Head and Neck: Quest for Novel Diagnostic Markers.

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Affiliations

  • 1. Department of Tissue Pathology and Diagnostic Oncology, NSW Health Pathology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia; Sydney Medical School, Faculty of Medicine and Health Sciences, The University of Sydney, Sydney, New South Wales, Australia.
      Authors
    • Gupta R 1
    • Satgunaseelan L 1
    • Cheung VK 1
    (3 authors)
  • 2. School of Mathematics and Statistics, The University of Sydney, Sydney, New South Wales, Australia; Charles Perkins Centre, The University of Sydney, Sydney, New South Wales, Australia.
      Authors
    • Strbenac D 2
    • Yang J 2
    (2 authors)
  • 3. Department of Tissue Pathology and Diagnostic Oncology, NSW Health Pathology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
      Authors
    • Narayanappa H 3
    (1 author)
  • 4. Graduate School of Medicine, University of Wollongong, Wollongong, New South Wales, Australia; Illawarra Health and Medical Research Institute, Wollongong, New South Wales, Australia; Illawarra Shoalhaven Local Health District, Wollongong, New South Wales, Australia.
      Authors
    • Ashford B 4
    • Mitchell J 4
    (2 authors)
  • 5. Graduate School of Medicine, University of Wollongong, Wollongong, New South Wales, Australia; Illawarra Health and Medical Research Institute, Wollongong, New South Wales, Australia.
      Authors
    • Thind A 5
    (1 author)
    • Show all (12)

ORCIDs linked to this article

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Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 18 Apr 2023, 36(8):100190
https://doi.org/10.1016/j.modpat.2023.100190 PMID: 37080394 

Abstract 

Squamous cell carcinoma is the most common head and neck malignancy arising from the oral mucosa and the skin. The histologic and immunohistochemical features of oral squamous cell carcinoma (OSCC) and head and neck cutaneous squamous cell carcinoma (HNcSCC) are similar, making it difficult to identify the primary site in cases of metastases. With the advent of immunotherapy, reliable distinction of OSCC and HNcSCC at metastatic sites has important treatment and prognostic implications. Here, we investigate and compare the genomic landscape of OSCC and HNcSCC to identify diagnostically useful biomarkers. Whole-genome sequencing data from 57 OSCC and 41 HNcSCC patients were obtained for tumor and matched normal samples. Tumor mutation burden (TMB), Catalogue of Somatic Mutations in Cancer (COSMIC) mutational signatures, frequent chromosomal alterations, somatic single nucleotide, and copy number variations were analyzed. The median TMB of 3.75 in primary OSCC was significantly lower (P < .001) than that of 147.51 mutations/Mb in primary HNcSCC. The COSMIC mutation signatures were significantly different (P < .001) between OSCC and HNcSCC. OSCC showed COSMIC single-base substitution (SBS) mutation signature 1 and AID/APOBEC activity-associated signature 2 and/or 13. All except 1 HNcSCC from hair-bearing scalp showed UV damage-associated COSMIC SBS mutation signature 7. Both OSCC and HNcSCC demonstrated a predominance of tumor suppressor gene mutations, predominantly TP53. The most frequently mutated oncogenes were PIK3CA and MUC4 in OSCC and HNcSCC, respectively. The metastases of OSCC and HNcSCC demonstrated TMB and COSMIC SBS mutation signatures similar to their primary counterparts. The combination of high TMB and UV signature in a metastatic keratinizing squamous cell carcinoma suggests HNcSCC as the primary site and may also facilitate decisions regarding immunotherapy. HNcSCC and OSCC show distinct genomic profiles despite histologic and immunohistochemical similarities. Their genomic characteristics may underlie differences in behavior and guide treatment decisions in recurrent and metastatic settings.

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