TY - JOUR TI - Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations AU - Brouillard, Pascal AU - Schlögel, Matthieu J. AU - Homayun Sepehr, Nassim AU - Helaers, Raphaël AU - Queisser, Angela AU - Fastré, Elodie AU - Boutry, Simon AU - Schmitz, Sandra AU - Clapuyt, Philippe AU - Hammer, Frank AU - Dompmartin, Anne AU - Weitz-Tuoretmaa, Annamaria AU - Laranne, Jussi AU - Pasquesoone, Louise AU - Vilain, Catheline AU - Boon, Laurence M. AU - Vikkula, Miikka T2 - Orphanet Journal of Rare Diseases AB - Theragnostic management, treatment according to precise pathological molecular targets, requests to unravel patients’ genotypes. We used targeted next-generation sequencing (NGS) or digital droplet polymerase chain reaction (ddPCR) to screen for somatic PIK3CA mutations on DNA extracted from resected lesional tissue or lymphatic endothelial cells (LECs) isolated from lesions. Our cohort (n = 143) was composed of unrelated patients suffering from a common lymphatic malformation (LM), a combined lymphatic malformation [lymphatico-venous malformation (LVM), capillaro-lymphatic malformation (CLM), capillaro-lymphatico-venous malformation (CLVM)], or a syndrome [CLVM with hypertrophy (Klippel-Trenaunay-Weber syndrome, KTS), congenital lipomatous overgrowth-vascular malformations-epidermal nevi -syndrome (CLOVES), unclassified PIK3CA-related overgrowth syndrome (PROS) or unclassified vascular (lymphatic) anomaly syndrome (UVA)]. DA - 2021/06/10/ PY - 2021 DO - 10.1186/s13023-021-01898-y DP - BioMed Central VL - 16 IS - 1 SP - 267 J2 - Orphanet Journal of Rare Diseases SN - 1750-1172 UR - https://doi.org/10.1186/s13023-021-01898-y Y2 - 2021/06/11/22:29:26 KW - Allele KW - Epidemiology KW - Frequency KW - Gene KW - Isolated KW - Lymphatic malformation KW - Mutation KW - PI3K KW - Somatic KW - Theragnostic ER -