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 …

Alpelisib for treatment of patients with PIK3CA-related overgrowth spectrum (PROS)

G Canaud, JCL Gutierrez, AD Irvine, P Vabres… - Genetics in …, 2023 - Elsevier
Purpose PIK3CA-related overgrowth spectrum (PROS) encompasses several rare
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 …

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 …

Cancer-associated PIK3CA mutations in overgrowth disorders

RR Madsen, B Vanhaesebroeck, RK Semple - Trends in molecular …, 2018 - cell.com
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 …

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Q Venot, T Blanc, SH Rabia, L Berteloot, S Ladraa… - Nature, 2018 - nature.com
CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal
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 …

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 …

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 …

[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 …