Fibro-adipose vascular anomaly (FAVA): three case reports with an emphasis on the mammalian target of rapamycin (mTOR) pathway

• Main Authors: Yumiko Hori (Author), Katsutoshi Hirose (Author), Noriko Aramaki-Hattori (Author), Sachi Suzuki (Author), Robert Nakayama (Author), Masanori Inoue (Author), Takahiro Matsui (Author), Masaharu Kohara (Author), Satoru Toyosawa (Author), Eiichi Morii (Author)
• Formato: Libro
• Publicado: BMC, 2020-07-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

Abstract Background Fibro-adipose vascular anomaly (FAVA) is a new entity of vascular anomalies with somatic and mosaic gain-of-function mutations of the phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA). PIK3CA mutation excessively activates mammalian target of rapamy...