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PIK3CA mutations in cutaneous squamous cell carcinoma
Yudo Kusaba1, Ikko Kajihara1, Ryoko Sakamoto1
1Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Intractable & Rare Diseases Research
|September 4, 2023
Summary
This study found the prevalence of PIK3CA hotspot mutations in cutaneous squamous cell carcinoma (cSCC). PIK3CA mutations were detected in 5.0% of cSCC cases, with no significant correlation to clinical characteristics.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Oncogenic PIK3CA mutations activate PI3K-AKT signaling, promoting cancer growth.
- PIK3CA mutations are key biomarkers for targeted therapies, particularly PI3K inhibitors.
- Hotspot mutations in exons 9 and 20 account for most PIK3CA alterations in human cancers.
Purpose of the Study:
- To determine the prevalence of three PIK3CA hotspot mutations (E542K, E545K, H1047R) in cutaneous squamous cell carcinoma (cSCC).
- To evaluate the correlation between PIK3CA mutations and clinical characteristics in cSCC patients.
Main Methods:
- Utilized digital droplet PCR (ddPCR) to analyze PIK3CA hotspot mutations in 143 cSCC cases.
- Investigated the frequency of E542K, E545K, and H1047R mutations.
Main Results:
- The overall frequency of PIK3CA hotspot mutations in cSCC was 5.0% (7/143).
- Individual mutation frequencies were: E542K (1.4%), E545K (2.8%), and H1047R (0.7%).
- No significant correlation was observed between PIK3CA mutations and clinical characteristics.
Conclusions:
- This study establishes the prevalence of PIK3CA hotspot mutations in cSCC.
- While PIK3CA mutations did not correlate with clinical features in this cohort, targeted therapies like PI3K inhibitors may hold potential for mutation-positive cSCC.
- Further research and clinical trials are warranted to explore therapeutic strategies for PIK3CA-mutated cSCC.
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