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 …

Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes

LT Emrick, L Murphy, AA Shamshirsaz… - American Journal of …, 2014 - Wiley Online Library
Congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and
combined‐type vascular malformations, epidermal nevi, skeletal and spinal anomalies …

[HTML][HTML] Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

KC Kurek, VL Luks, UM Ayturk, AI Alomari… - The American Journal of …, 2012 - cell.com
Congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies
(CLOVES) is a sporadically occurring, nonhereditary disorder characterized by asymmetric …

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 …

[HTML][HTML] 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 …

Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum

KM Keppler‐Noreuil, JC Sapp… - American journal of …, 2014 - Wiley Online Library
Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental
overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include …

Klippel–Trenaunay syndrome belongs to the PIK3CA‐related overgrowth spectrum (PROS)

H Vahidnezhad, L Youssefian… - Experimental …, 2016 - Wiley Online Library
Abstract Klippel–Trenaunay syndrome (KTS), originally described as a triad of cutaneous
capillary malformation, bone and soft‐tissue hypertrophy, as well as venous and lymphatic …

PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

KM Keppler‐Noreuil, JJ Rios… - American journal of …, 2015 - Wiley Online Library
Somatic activating mutations in the phosphatidylinositol‐3‐kinase/AKT/mTOR pathway
underlie heterogeneous segmental overgrowth phenotypes. Because of the extreme …

[HTML][HTML] PIK3CA-related overgrowth spectrum

G Mirzaa, JM Graham Jr, K Keppler-Noreuil - 2021 - europepmc.org
PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in
which the core features are congenital or early-childhood onset of segmental/focal …

Somatic PIK3CA mutations in seven patients with PIK3CA‐related overgrowth spectrum

KS Yeung, JJK Ip, CP Chow, EYL Kuong… - American journal of …, 2017 - Wiley Online Library
Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently
coined the “PIK3CA‐Related Overgrowth Spectrum.” Here, we present seven molecularly …