Publications by authors named "Nassim Homayun Sepehr"
Article Synopsis
- Gorham-Stout disease (GSD) is a rare lymphatic disorder causing abnormal lymphatic growth in bones, leading to severe complications like chylothorax, with unclear causes and insufficient treatments.
- Researchers discovered a specific mutation in the KRAS gene linked to GSD and created a mouse model (iLECKras) to study its effects, finding that it caused bone lymphatics and abnormal lymphatic valve development.
- The study also tested trametinib, a drug that inhibited a signaling pathway related to KRAS, showing promise in mitigating symptoms in the mouse model, suggesting potential for treating GSD in patients.
Background: Theragnostic management, treatment according to precise pathological molecular targets, requests to unravel patients' genotypes. We used targeted next-generation sequencing (NGS) or digital droplet polymerase chain reaction (ddPCR) to screen for somatic PIK3CA mutations on DNA extracted from resected lesional tissue or lymphatic endothelial cells (LECs) isolated from lesions. Our cohort (n = 143) was composed of unrelated patients suffering from a common lymphatic malformation (LM), a combined lymphatic malformation [lymphatico-venous malformation (LVM), capillaro-lymphatic malformation (CLM), capillaro-lymphatico-venous malformation (CLVM)], or a syndrome [CLVM with hypertrophy (Klippel-Trenaunay-Weber syndrome, KTS), congenital lipomatous overgrowth-vascular malformations-epidermal nevi -syndrome (CLOVES), unclassified PIK3CA-related overgrowth syndrome (PROS) or unclassified vascular (lymphatic) anomaly syndrome (UVA)].
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