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September 4, 2023SHILAP Revista de lepidopterologíaOpen Access

Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel–Trenaunay syndrome in an Asian population

Yuki Sasaki Kosuke Ishikawa Kanako C. Hatanaka Yumiko Oyamada Yusuke Sakuhara Tadashi Shimizu Tatsuro Saito Naoki Murao Tomohiro Onodera Takahiro Miura Taku Maeda Emi Funayama Yutaka Hatanaka Yuhei Yamamoto Satoru Sasaki

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Abstract

The PI3K/AKT/mTOR pathway in mesenchymal tissues was activated in patients with KTS. Amplicon-based targeted NGS could identify low-level mosaicism from low-input DNA extracted from FFPE tissues, potentially providing a diagnostic option for personalized medicine with inhibitors of the PI3K/AKT/mTOR signaling pathway.

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Sasaki et al. (2023) studied this question.

synapsesocial.com/papers/69d7ae060a5b166600f306d6 https://doi.org/10.1186/s13023-023-02893-1

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