PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib
A Pagliazzi, T Oranges, G Traficante, C Trapani… - Frontiers in …, 2021 - frontiersin.org
PIK3CA-related overgrowth spectrum (PROS) is an umbrella term referring to various clinical
entities, which share the same pathogenetic mechanism. These conditions are caused by …
entities, which share the same pathogenetic mechanism. These conditions are caused by …
Alpelisib for treatment of patients with PIK3CA-related overgrowth spectrum (PROS)
Purpose PIK3CA-related overgrowth spectrum (PROS) encompasses several rare
conditions resulting from activating variants in PIK3CA. Alpelisib, a PI3Kα-selective inhibitor …
conditions resulting from activating variants in PIK3CA. Alpelisib, a PI3Kα-selective inhibitor …
Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib
G Morin, C Degrugillier-Chopinet, M Vincent… - Journal of Experimental …, 2022 - rupress.org
PIK3CA-related overgrowth spectrum (PROS) includes rare genetic conditions due to gain-
of-function mutations in the PIK3CA gene. There is no approved medical therapy for patients …
of-function mutations in the PIK3CA gene. There is no approved medical therapy for patients …
Alpelisib to treat CLOVES syndrome, a member of the PIK3CA‐related overgrowth syndrome spectrum
G Garreta Fontelles, J Pardo Pastor… - British journal of …, 2022 - Wiley Online Library
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 …
phosphatidylinositol 3‐kinase catalytic subunit alpha (PIK3CA) gene. It is part of the PIK3CA …
Cancer-associated PIK3CA mutations in overgrowth disorders
PIK3CA is one of the most commonly mutated genes in solid cancers. PIK3CA mutations are
also found in benign overgrowth syndromes, collectively known as PIK3CA-related …
also found in benign overgrowth syndromes, collectively known as PIK3CA-related …
Targeted therapy in patients with PIK3CA-related overgrowth syndrome
CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal
naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic …
naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic …
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT …
DC Loconte, V Grossi, C Bozzao, G Forte, R Bagnulo… - PloS one, 2015 - journals.plos.org
Background PIK3CA-related overgrowth spectrum (PROS) include a group of disorders that
affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like …
affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like …
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 …
A Mussa, C Leoni, M Iacoviello, D Carli… - Journal of Medical …, 2023 - jmg.bmj.com
Background Postzygotic activating PIK3CA variants cause several phenotypes within the
PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific …
PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific …
CLOVES syndrome: review of a PIK3CA‐related overgrowth spectrum (PROS)
A Martinez‐Lopez, G Blasco‐Morente… - Clinical …, 2017 - Wiley Online Library
Overgrowth syndromes are characterized by global or localized disproportionate growth
associated with other anomalies, including vascular malformations and neurological and/or …
associated with other anomalies, including vascular malformations and neurological and/or …
[HTML][HTML] Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum
VER Parker, KM Keppler-Noreuil, L Faivre, M Luu… - Genetics in …, 2019 - Elsevier
Purpose PIK3CA-related overgrowth spectrum (PROS) encompasses a range of debilitating
conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants …
conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants …