Epidermotropic metastasis of squamous cell carcinoma of the tonsil: A case report with molecular confirmation

J Cutan Pathol. 2021 Dec;48(12):1514-1519. doi: 10.1111/cup.14108. Epub 2021 Aug 10.

Abstract

Metastasis of oropharyngeal squamous cell carcinoma (SCC) to skin is uncommon and portends a poor prognosis. Clinical history and histopathology are key to discerning between metastatic disease vs de novo SCC of the skin. We describe a case of an HPV+ tonsillar SCC in a 77-year-old male, with metastasis to the neck skin. This case is unique because of prominent in situ epidermal involvement on skin biopsy specimen, complicating the distinction between primary and secondary disease. The nature of the lesion was resolved using next-generation sequencing of both the primary oropharyngeal SCC and skin lesion biopsy specimens. Both tumors showed identical ATR D1639G somatic mutations, while the skin lesion contained an additional POLE F1366L mutation. Clonal evolution of metastatic lesions is a well-described phenomenon; comparing the genetic profiles of primary and metastatic specimens can be useful in evaluating the tumor origin as well as identifying targetable genetic aberrations.

Keywords: HPV-positive; epidermotropic metastasis; squamous cell carcinoma.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Ataxia Telangiectasia Mutated Proteins / genetics
  • DNA Polymerase II / genetics
  • Human papillomavirus 16
  • Humans
  • Male
  • Mutation
  • Papillomavirus Infections / complications
  • Poly-ADP-Ribose Binding Proteins / genetics
  • Skin Neoplasms / genetics
  • Skin Neoplasms / secondary*
  • Skin Neoplasms / virology
  • Squamous Cell Carcinoma of Head and Neck / genetics
  • Squamous Cell Carcinoma of Head and Neck / secondary*
  • Squamous Cell Carcinoma of Head and Neck / virology
  • Tonsillar Neoplasms / genetics
  • Tonsillar Neoplasms / pathology*
  • Tonsillar Neoplasms / virology

Substances

  • Poly-ADP-Ribose Binding Proteins
  • ATR protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • DNA Polymerase II
  • POLE protein, human