Article
PIK3CA mutation correlates with mTOR pathway expression but not clinical and pathological features in Fibfibroipose vascular anomaly (FAVA).
Diagnostic pathology - 30 Jan 2022
Hori Yumiko, Hirose Katsutoshi, Ozeki Michio, Hata Kenji, Motooka Daisuke, Tahara Shinichiro, Matsui Takahiro, Kohara Masaharu, Higashihara Hiroki, Ono Yusuke, Tanaka Kaishu, Toyosawa Satoru, Morii Eiichi
Abstract excerpt
BACKGROUND: Fibro-adipose vascular anomaly (FAVA) is a rare and new entity of vascular anomaly. Activating mutations in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene were identified at a frequency of 62.5% in FAVA cases. The PIK3CA mutations excessively activate mammalian target of rapamycin (mTOR) pathway, which promotes angiogenesis and lymphangiogenesis, implying that...
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