Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly
L Rodriguez-Laguna, N Agra, K Ibañez… - Journal of Experimental …, 2019 - rupress.org
Generalized lymphatic anomaly (GLA) is a vascular disorder characterized by diffuse or
multifocal lymphatic malformations (LMs). The etiology of GLA is poorly understood. We …
multifocal lymphatic malformations (LMs). The etiology of GLA is poorly understood. We …
[HTML][HTML] Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations
K Zenner, CV Cheng, DM Jensen, AE Timms… - JCI insight, 2019 - ncbi.nlm.nih.gov
Lymphatic malformations (LMs) are congenital, nonneoplastic vascular malformations
associated with postzygotic activating PIK3CA mutations. The mutation spectrum within LMs …
associated with postzygotic activating PIK3CA mutations. The mutation spectrum within LMs …
[HTML][HTML] PIK3CA mutations are specifically localized to lymphatic endothelial cells of lymphatic malformations
H Blesinger, S Kaulfuß, T Aung, S Schwoch, L Prantl… - PLoS …, 2018 - journals.plos.org
Lymphatic malformations (LM) are characterized by the overgrowth of lymphatic vessels
during pre-and postnatal development. Macrocystic, microcystic and combined forms of LM …
during pre-and postnatal development. Macrocystic, microcystic and combined forms of LM …
[HTML][HTML] Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation
I Martinez-Corral, Y Zhang, M Petkova… - Nature …, 2020 - nature.com
Lymphatic malformations (LMs) are debilitating vascular anomalies presenting with large
cysts (macrocystic) or lesions that infiltrate tissues (microcystic). Cellular mechanisms …
cysts (macrocystic) or lesions that infiltrate tissues (microcystic). Cellular mechanisms …
Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting …
JM Grenier, AJ Borst, SE Sheppard… - Pediatric Blood & …, 2023 - Wiley Online Library
Complex lymphatic anomalies are debilitating conditions characterized by aberrant
development of the lymphatic vasculature (lymphangiogenesis). Diagnosis is typically made …
development of the lymphatic vasculature (lymphangiogenesis). Diagnosis is typically made …
[HTML][HTML] Constitutively active PIK3CA mutations are expressed by lymphatic and vascular endothelial cells in capillary lymphatic venous malformation
TD Le Cras, J Goines, N Lakes, P Pastura, AM Hammill… - Angiogenesis, 2020 - Springer
Capillary lymphatic venous malformations (CLVM) are complex vascular anomalies
characterized by aberrant and enlarged lymphatic and blood vessels. CLVM appear during …
characterized by aberrant and enlarged lymphatic and blood vessels. CLVM appear during …
Alpelisib administration reduced lymphatic malformations in a mouse model and in patients
F Delestre, Q Venot, C Bayard, A Fraissenon… - Science Translational …, 2021 - science.org
Lymphatic cystic malformations are rare genetic disorders mainly due to somatic gain-of-
function mutations in the PIK3CA gene. These anomalies are frequently associated with …
function mutations in the PIK3CA gene. These anomalies are frequently associated with …
[HTML][HTML] Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations
P Brouillard, MJ Schlögel, N Homayun Sepehr… - Orphanet journal of rare …, 2021 - Springer
Background Theragnostic management, treatment according to precise pathological
molecular targets, requests to unravel patients' genotypes. We used targeted next …
molecular targets, requests to unravel patients' genotypes. We used targeted next …
PIK3CA mutations in vascular malformations
SD Castillo, E Baselga, M Graupera - Current Opinion in …, 2019 - journals.lww.com
Oncogenic mutations on PIK3CA causing lymphatic malformations and venous
malformations are also frequently found in epithelial cancer. Thus, fundamental research …
malformations are also frequently found in epithelial cancer. Thus, fundamental research …
Activating PIK3CA alleles and lymphangiogenic phenotype of lymphatic endothelial cells isolated from lymphatic malformations
AJ Osborn, P Dickie, DE Neilson… - Human molecular …, 2015 - academic.oup.com
Lymphatic malformations (LMs) are developmental anomalies of the lymphatic system
associated with the dysmorphogenesis of vascular channels lined by lymphatic endothelial …
associated with the dysmorphogenesis of vascular channels lined by lymphatic endothelial …