Clinical and molecular characterization of non-PIK3CA-related vascular malformations with overgrowth in a pediatric cohort. (PubMed, World J Pediatr) - Oct 1, 2026 - "Non-PIK3CA VMs with overgrowth constitute a clinically and molecularly heterogeneous spectrum with substantial phenotypic overlap across genotypes, rendering phenotype-based classification unreliable. Somatic mosaicism, variable allele frequency, and tissue-specific expression underlie this heterogeneity. Our findings advocate for broad NGS panels with tissue-based analysis, systematic parental testing, and molecularly driven classification. The observed response to alpelisib in TEK-related disease supports the concept of convergent downstream pathway activation as a rationale for targeted therapies beyond PROS."
Journal • Pediatrics • EPHB4 • GNA11 • GNAQ • PIK3CA • PTEN • RASA1
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Alessandro Mauro Spinelli; Alessandro Mussa; Carla Morando; Chiara Leoni; Federico Rondot; Giuseppe Reynolds; Iacopo Bellani; Maria Luca; Marilidia Piglionica; Nicoletta Resta; Paola Coppo; Paola Sabrina Buonuomo; Roberta La Selva; Simona Ragusa; Sonia Perrelli; Stefania Martino; Stefania Massuras
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