Synchronous Basal Cell Carcinoma and Squamous Cell Carcinoma of Nasal Vestibule with Novel Unique Variants Identified by Whole-exome Sequencing

Ida Ghlichloo, Zhongbo Jin, Ruohao Fan, Caili Tong, Petr Starostik, Jeremy R. Chien, Jinping Lai

Research output: Contribution to journalArticlepeer-review

Abstract

Background/Aim: It is estimated that nonmelanoma skin cancer (NMSC), including basal cell carcinoma (BCC) and squamous cell carcinoma (SCC), affects more than 3 million Americans each year. Translation of next-generation sequencing (NGS) data into identification of new potential targets for therapeutic applications may be helpful. Whole-exome sequencing (WES) is a widely used NGS method that involves sequencing the protein-coding regions of the genome. Case Report: We report a case of a 65-year-old female smoker who was found to have two 6 mm lesions in her left nasal vestibule. Biopsies demonstrated synchronous BCC and SCC. The patient underwent surgical excision of both cancers with safe margins followed by plastic reconstruction. WES was performed on both cancers and 16 alterations including BRCA2 (p.P389S), FAM5C (S420L), KMT2A (P855L), and SMO (L412F), as unique for BCC, and 4 alterations including TP53 (p.H179Q) and CDKN2A (p.P114L), as unique for SCC, were identified. Conclusion: We report the first documented case with unique genetic alterations in two distinct and synchronous skin BCC and SCC arising from the same nasal vestibule of a patient. This adds to the growing field of data regarding genetic variants in characterizing malignancies and potentially for targeted therapies.

Original languageEnglish (US)
Pages (from-to)251-257
Number of pages7
JournalIn Vivo
Volume36
Issue number1
DOIs
StatePublished - Feb 2022
Externally publishedYes

Keywords

  • Basal cell carcinoma
  • FAM5C
  • Immunohistochemistry
  • Immunotherapy
  • Next generation sequencing
  • Nonmelanoma skin cancer
  • Squamous cell carcinoma
  • Synchronous primary malignancy
  • Targeted therapy
  • Whole exome sequencing

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Pharmacology

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