A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations

被引:0
作者
Guillaume Canaud
Adrienne M. Hammill
Denise Adams
Miikka Vikkula
Kim M. Keppler-Noreuil
机构
[1] Université de Paris,Overgrowth Syndrome and Vascular Anomalies Unit, Hôpital Necker Enfants Malades, INSERM U1151, Assistance Publique
[2] University of Cincinnati College of Medicine,Hôpitaux de Paris
[3] Perelman School of Medicine and the University of Pennsylvania,Division of Hematology, Cancer and Blood Diseases Institute, Cincinnati Children’s Hospital Medical Center and Department of Pediatrics
[4] University of Louvain,Division of Oncology, Comprehensive Vascular Anomalies Program, Children’s Hospital of Philadelphia
[5] University of Louvain,Human Molecular Genetics, de Duve Institute
[6] Bichat-Claude Bernard Hospital,Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires Saint Luc
[7] University of Louvain,VASCERN VASCA European Reference Centre
[8] University of Wisconsin School of Medicine and Public Health,Walloon Excellence in Lifesciences and Biotechnology (WELBIO)
来源
Orphanet Journal of Rare Diseases | / 16卷
关键词
PI3K; PROS; Vascular malformation; Sirolimus; Alpelisib; Miransertib;
D O I
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  • [1] Parker VER(2019)Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum Genet Med 21 1189-1198
  • [2] Keppler-Noreuil KM(2015)PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation Am J Med Genet A 167A 287-295
  • [3] Faivre L(2015)Somatic activating PIK3CA mutations cause venous malformation Am J Hum Genet 97 914-921
  • [4] Luu M(2021)A dyadic approach to the delineation of diagnostic entities in clinical genomics Am J Hum Genet 108 8-15
  • [5] Oden NL(2019)Vascular anomalies: diagnosis of complicated anomalies and new medical treatment options Hematol Oncol Clin North Am 33 455-470
  • [6] De Silva L(2005)Exploiting the PI3K/AKT pathway for cancer drug discovery Nat Rev Drug Discov 4 988-1004
  • [7] Keppler-Noreuil KM(2019)PI3K/mTOR pathway inhibition: opportunities in oncology and rare genetic diseases Int J Mol Sci 20 5792-421
  • [8] Rios JJ(2016)Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies Am J Med Genet C Semin Med Genet 172 402-238
  • [9] Parker VE(2017)Vascular anomalies caused by abnormal signaling within endothelial cells: targets for novel therapies Semin Intervent Radiol 34 233-635
  • [10] Semple RK(2017)The PI3K pathway in human disease Cell 170 605-2062