INTRODUCTION
Basal cell carcinoma (BCC) is the most common malignancy in the United States with approximately 4.3 million cases each year.1-3 Nonmelanoma skin cancer, 80% of which are BCC, compose more malignancies than all other cancers combined.1,2,4,5 BCC has good outcomes when detected early, with a cure rate of up to 99% with Mohs micrographic surgery (MMS) and a standard cure rate goal of 95% across all treatment modalities.6,7 Although the mortality rate from BCC is relatively low at an estimated 0.12%, BCCs can become locally invasive and destructive, resulting in significant patient morbidity.8,9
While more prevalent in fair-skinned Caucasians, BCC is also present in populations with skin of color. Despite the increasing incidence of BCC in skin of color, these patients are often underrepresented in clinical trials, with an average of less than 10% of clinical trial participants being minorities.10 To our knowledge, no published studies have evaluated differences in specific somatic gene mutations in BCC for patients of different races and ethnicities. This pilot study aims to analyze the somatic gene mutations and how they might differ between Caucasian, Asian, and Hispanic patients.
While more prevalent in fair-skinned Caucasians, BCC is also present in populations with skin of color. Despite the increasing incidence of BCC in skin of color, these patients are often underrepresented in clinical trials, with an average of less than 10% of clinical trial participants being minorities.10 To our knowledge, no published studies have evaluated differences in specific somatic gene mutations in BCC for patients of different races and ethnicities. This pilot study aims to analyze the somatic gene mutations and how they might differ between Caucasian, Asian, and Hispanic patients.
MATERIALS AND METHODS
The authors’ Institutional Review Board approved all human studies. A cohort of 23 patients from an academic medical institution was used for this study. Patients were divided by race and ethnicity into three groups based on medical records: Asian (n=5), Hispanic (n=10), and Caucasian (n=8). BCC tissue was obtained from each patient, and formalin-fixed paraffin embedded (FFPE) samples were created. A board-certified pathologist evaluated hematoxylin and eosin-stained sections of the samples to determine percent tumor content in areas selected for extraction. Data was obtained using the Sentosa SQ Oncology Panel (Vela Diagnostics, Fairfield, NJ), a next generation sequencing based assay. Sentosa SQ Reporter software (Vela Diagnostics) was used to perform secondary analysis (variant calling, report generation), which filters to 5%