RT Journal Article
SR Electronic
T1 Synchronous Basal Cell Carcinoma and Squamous Cell Carcinoma of Nasal Vestibule With Novel Unique Variants Identified by Whole-exome Sequencing
JF In Vivo
JO In Vivo
FD International Institute of Anticancer Research
SP 251
OP 257
DO 10.21873/invivo.12698
VO 36
IS 1
A1 IDA GHLICHLOO
A1 ZHONGBO JIN
A1 RUOHAO FAN
A1 CAILI TONG
A1 PETR STAROSTIK
A1 JEREMY R. CHIEN
A1 JINPING LAI
YR 2022
UL http://iv.iiarjournals.org/content/36/1/251.abstract
AB 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.