Vascular and lymphatic malformations represent a challenge for clinicians. The identification
of inherited and somatic mutations in important signaling pathways, including the PI3K …

Vascular malformations are most often caused by somatic mutations of the PI3K/mTOR and
the RAS signaling pathways, which can be identified in the affected tissue. Venous …

Treatment of vascular anomalies (VAs) is mostly empirical and, in many instances
unsatisfactory, as the pathogeneses of these heterogeneous conditions remain largely …

Background Theragnostic management, treatment according to precise pathological
molecular targets, requests to unravel patients' genotypes. We used targeted next …

Purpose PIK3CA-related overgrowth spectrum (PROS) encompasses a range of debilitating
conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants …

PIK3CA encodes the class I PI3Kα isoform and is frequently mutated in cancer. Activating
mutations in PIK3CA also cause a range of congenital disorders featuring asymmetric tissue …

CLOVES syndrome is a rare congenital overgrowth disorder caused by mutations in the
phosphatidylinositol 3‐kinase catalytic subunit alpha (PIK3CA) gene. It is part of the PIK3CA …

Somatic activating Kirsten rat sarcoma viral oncogene homologue (KRAS) mutations have
been reported in patients with arteriovenous malformations. By producing LSL-Kras (G12D); …

Venous malformations (VMs) are the most common vascular malformations. TEK and
PIK3CA are the causal genes of VMs, and may be involved in the PI3K/AKT pathway …

Vascular anomalies are localized defects of morphogenesis that can affect lymphatic and
blood vessels. They are generally called birthmarks, typically observed soon after birth and …