PIK3CA mutations in cutaneous squamous cell carcinoma

Yudo Kusaba; Ikko Kajihara; Ryoko Sakamoto; Saki Maeda-Otsuka; Saori Yamada-Kanazawa; Soichiro Sawamura; Katsunari Makino; Jun Aoi; Shinichi Masuguchi; Satoshi Fukushima

doi:10.5582/irdr.2023.01069

Letter

PIK3CA mutations in cutaneous squamous cell carcinoma

Yudo Kusaba, Ikko Kajihara, Ryoko Sakamoto, Saki Maeda-Otsuka, Saori Yamada-Kanazawa, Soichiro Sawamura, Katsunari Makino, Jun Aoi, Shinichi Masuguchi, Satoshi Fukushima

Author information

Yudo Kusaba
Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Ikko Kajihara
Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Ryoko Sakamoto
Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Saki Maeda-Otsuka
Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Saori Yamada-Kanazawa
Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Soichiro Sawamura
Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Katsunari Makino
Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Jun Aoi
Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Shinichi Masuguchi
Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Satoshi Fukushima
Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.

Keywords: cutaneous squamous cell carcinoma, PIK3CA mutations, Droplet digital polymerase chain reaction (ddPCR), metastasis

JOURNAL FREE ACCESS

2023 Volume 12 Issue 3 Pages 206-207

DOI https://doi.org/10.5582/irdr.2023.01069

Browse “Advance online publication” version

Details

Abstract

Oncogenic PIK3CA mutation activates phosphoinositide 3-kinase (PI3K) enzyme, and PI3K-AKT signaling activation induces several growth-regulatory transcription factors. PIK3CA mutations have attracted attention as biomarker in clinical trials of various inhibitors including PI3K inhibitors. About 80% of PIK3CA mutations in human cancers are observed in 'hot spot' regions: exon 9 (E542K and E545K) and exon 20 (H1047R). There were few reports about clinical significance of PIK3CA mutations in cutaneous cell carcinoma (cSCC). Thus, we investigate the prevalence of three PIK3CA hot spot mutations in 143 cases with cSCC and evaluate the correlation between the presence of these mutations and clinical characteristics by using ddPCR. The frequency of each E542K, E545K and H1047R PIK3CA mutations was 1.4% (2/143), 2.8% (4/143), and 0.7% (1/143) respectively. No significant correlation was found between PIK3CA mutations and clinical characteristics. Although additional basic researches and clinical trials are necessary, various inhibitors may be effective therapeutics for PIK3CA mutation-positive cSCC. Our study revealed the prevalence of PIK3CA mutations in cSCC.

Corresponding author

Register with J-STAGE for free!