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Gene Fusion-Driven Cutaneous Adnexal Neoplasms: An Updated Review Emphasizing Molecular Characteristics
Gerardo Cazzato1, Maged Daruish1, Francesco Fortarezza2
1Section of Molecular Pathology, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari "Aldo Moro", Bari, Italy.
Abstract:
Gene rearrangements or fusions have emerged as critical oncogenic drivers in various cutaneous adnexal neoplasms. This review offers a comprehensive overview of both established and recently identified molecular alterations, with a specific focus on gene fusions. Key alterations discussed include YAP1 rearrangements, CRTC1::MAML2 fusions, BRD3 rearrangements, MYB::NFIB fusions, ETV6::NTRK3 fusions, and PLAG1 rearrangements, alongside rarer fusion transcripts, such as MEF2C::SS18 , FOXK1::GRHL1/2 , GPS2::GRHL , and RARA::NPEPPS . The article highlights the significance of these genetic changes in tumor biology and their potential therapeutic implications for locally advanced and metastatic skin adnexal tumors. It also addresses diagnostic challenges and molecular distinctions, providing updated insights into adnexal tumors driven by these gene fusions.
Insights
Gene fusions are key drivers in skin adnexal tumors. Understanding these molecular alterations offers insights into tumor biology and potential new treatments for advanced skin cancers.
Area of Science:
- Oncology
- Molecular Biology
- Dermatopathology
Background:
- Gene rearrangements and fusions are increasingly recognized as critical oncogenic drivers in cutaneous adnexal neoplasms.
- A diverse range of molecular alterations underlies the pathogenesis of these tumors.
Purpose of the Study:
- To provide a comprehensive review of established and novel molecular alterations, focusing on gene fusions in cutaneous adnexal tumors.
- To highlight the significance of these genetic changes in tumor biology and their therapeutic implications.
Main Methods:
- Literature review of established and recent studies on gene fusions in cutaneous adnexal neoplasms.
- Analysis of key molecular alterations including YAP1, CRTC1::MAML2, BRD3, MYB::NFIB, ETV6::NTRK3, PLAG1, and rarer fusion transcripts.
Main Results:
- Key gene fusions like YAP1, CRTC1::MAML2, MYB::NFIB, and ETV6::NTRK3 are significant drivers.
- Rarer fusions such as MEF2C::SS18 and FOXK1::GRHL1/2 also contribute to tumor development.
- These genetic alterations impact tumor biology and present therapeutic targets.
Conclusions:
- Gene fusions are pivotal in the oncogenesis of cutaneous adnexal tumors.
- Understanding these molecular drivers is crucial for diagnosis and developing targeted therapies for advanced and metastatic disease.
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