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Comprehensive Genomic Profiling of Cutaneous Adnexal Carcinomas: A Genomic Landscape Study
Maroun Bou Zerdan1,2, Kevin T Jamouss3, Alexandre Maalouf4
1Department of Internal Medicine, SUNY Upstate Medical University, Syracuse, NY 13210, USA.
Dermatopathology (Basel, Switzerland)
|April 24, 2026
Summary
This study analyzed genomic alterations in 276 cutaneous adnexal carcinomas (CACs). Sebaceous gland-derived (SEB) tumors showed the highest frequency of genomic alterations, suggesting potential therapeutic targets for these rare skin cancers.
Area of Science:
- Oncology
- Genomics
- Dermatology
Background:
- Cutaneous adnexal carcinomas (CACs) are rare malignant tumors originating from skin adnexa.
- Understanding their genomic landscape is crucial for developing targeted therapies.
Purpose of the Study:
- To comprehensively profile genomic alterations (GA) across diverse CAC subtypes.
- To identify specific genomic alterations associated with different CAC origins (sebaceous, sweat, hair follicle).
Main Methods:
- Hybrid capture-based comprehensive genomic profiling (CGP) was performed on 276 CACs.
- Analysis included microsatellite instability (MSI), tumor mutational burden (TMB), genomic loss of heterozygosity (gLOH), and mutational signatures.
- PD-L1 expression was assessed by immunohistochemistry.
Main Results:
- Sebaceous gland-derived (SEB) CACs exhibited the highest number of GA compared to sweat gland-derived (SWT) tumors.
- SEB tumors showed increased frequencies of RB1 and TP53 alterations, and higher MSI-high status.
- Tumor mutational burden varied significantly across subtypes, with exceptions in apocrine (APO) and digital papillary adenocarcinomas (DPA).
Conclusions:
- SEB tumors are characterized by a high burden of genomic alterations, indicating distinct molecular features.
- The study provides a catalog of common GA in CACs, highlighting potential biomarkers.
- Further clinical trials are needed to validate biomarkers and guide immune checkpoint inhibitor therapy for CACs.
