Fig. 1
From: Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations
Molecular diagnosis in pediatrics with vascular malformations by whole-exome sequencing. a Molecular diagnosis yield in vascular malformations. b Distribution diagram of PI3KCA somatic mutations. c VAF of PIK3CA mutations in patients with PROS and ccLMs. d VAF of PIK3CA hotspot and non-hotspot mutations. CLM: capillary-lymphatic malformation; CLOVES: congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal syndrome; CLVM: capillary lymphatic venous malformation; CMO: capillary malformation with overgrowth; DCMO: diffuse capillary malformation with overgrowth; KTS: Klippel–Trenaunay syndrome; LM: lymphatic malformation; PWS: port-wine stains; SWS: Sturge–Weber syndrome; uPROS: unclassified PIK3CA-related overgrowth spectrum; VAF: variant allele frequency; VM: venous malformation; VVM: verrucous venous malformation