PIK3CD L666P

Reports 1 in LM

Bars show the reported allele-fraction range on a 0 to 50 percent axis.

Position in PIK3CD 1 catalogued variant in this gene

Pathway and targeted therapy

Variant in the PI3K-AKT pathway. Repurposed drugs already used in the clinic for this pathway: alpelisib (PI3Kα inhibitor), sirolimus (mTOR inhibitor).

Open and recent trials (4 in vascular / lymphatic anomalies for alpelisib)

• A Trial of Targeted Therapies for Patients With Slow-Flow or Fast-Flow Vascular Malformations RECRUITING NCT05983159 · PHASE2 · WHO ICTRP
• 24VA022; VATCH Alpelisib for TIE2/PIK3CA Pathway VAs ACTIVE NOT RECRUITING NCT07543822 · PHASE2 · WHO ICTRP
• Alpelisib in Pediatric and Adult Patients With Lymphatic Malformations Associated With a PIK3CA Mutation. RECRUITING NCT05948943 · PHASE2, PHASE3 · WHO ICTRP
• A Study of Clinical Practice and Real-world Care of Patients Treated With mTOR, PI3K, and MEK Inhibitors for Extracranial Vascular Anomalies NOT YET RECRUITING NCT07767877 · WHO ICTRP

Primary sources 1

1. A somatic mutation in PIK3CD unravels a novel candidate gene for lymphatic malformation.

   Wang S, Wang W, Zhang X, Gui J, Zhang J, Guo Y, Liu Y, Han L, Liu Q, Li Y, Sun N, Liu Z, Du J, Tai J, Ni X. · Orphanet J Rare Dis · 2021

Mentioned in 1 publications indexed by Europe PMC.