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Multiomics Profiling Distinguishes Sebaceous Carcinoma from Benign Sebaceous Neoplasms and Provides Insight into the
Gabriel J Starrett1, Brittany C Baikie1, Benjamin K Stoff2
1Laboratory of Cellular Oncology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
Summary
Sebaceous carcinoma, a common skin cancer, shows distinct genomic and transcriptomic profiles compared to benign tumors. These findings reveal potential biomarkers for diagnosis and new treatment avenues like immunotherapy.
Area of Science:
- Oncology
- Genomics
- Molecular Biology
Background:
- Sebaceous carcinoma is a significant non-melanoma skin cancer in the US.
- Distinguishing sebaceous carcinoma from benign sebaceous neoplasms is challenging due to overlapping features.
- There is a need for molecular biomarkers to improve classification and guide treatment.
Purpose of the Study:
- To investigate the genomic and transcriptomic landscape of sebaceous neoplasms.
- To understand the etiology of sebaceous tumors.
- To identify molecular biomarkers for diagnosis and treatment of sebaceous carcinoma.
Main Methods:
- Whole-genome sequencing (WGS) and whole-transcriptome sequencing (WTS) were performed on 98 sebaceous neoplasms.
- Tumors were collected from academic and federal healthcare facilities in the US.
- Multiomics profiling was utilized to analyze genomic and transcriptomic data.
Main Results:
- Carcinomas exhibited decreased cholesterol biosynthesis and increased TP53 mutations compared to adenomas.
- Copy number gains (chromosome 6, 8q, and/or 18) and high tumor mutation burden were observed in carcinomas.
- Sebaceomas and atypical sebaceous neoplasms appear to be intermediate lesions in a precancerous model.
Conclusions:
- Key diagnostic biomarkers for sebaceous carcinoma were identified.
- Immunotherapy and modulation of cholesterol biosynthesis are suggested as potential treatment strategies.
- The study provides insights into the molecular basis and evolution of sebaceous neoplasms.
