Publications by authors named "Themis-Areti A Andreoti"
Article Synopsis
- PIK3CA gene variants are linked to vascular malformations, and this study aimed to analyze their phenotypes, locations within the gene, and frequency in patients with these conditions.
- Data was collected from 558 patients with vascular malformations between 2008 and 2022, with genetic testing performed on biopsy samples starting in 2020, leading to 89 patients being included by June 2022.
- The research found 25 PIK3CA variants, predominantly in nonsyndromic (simple/combined) vascular malformations, with notable hotspot and non-hotspot variants and significant differences in variant frequency between syndromic and nonsyndromic cases, highlighting the genetic diversity underlying these conditions.
Generalized lymphatic anomaly (GLA), Gorham-Stout disease (GSD), kaposiform lymphangiomatosis (KLA), and central conducting lymphatic anomaly (CCLA) are rare, multisystem lymphatic disorders, referred to as complex lymphatic anomalies (CLAs). Their etiology remains poorly understood; however, somatic activating mutations have recently been discovered, and the results of targeted treatments are promising. This study aimed to elaborate on the phenotypic description of CLA.
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