PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report
01 Pubblicazione su rivista
Valentini Virginia, Zelli Veronica, Rizzolo Piera, Silvestri Valentina, Alimandi Maurizio, D'Aloia Maria Michela, Giustini Sandra, Calvieri Stefano, Richetta Antonio Giovanni, Monteleone Giovanni, Ottini Laura
DOI: 10.1002/ccr3.1546
ISSN: 2050-0904
We present a patient with suspected Proteus Syndrome, an overgrowth disorder associated with AKT1c.49G>A mutation. NGS analysis detected PIK3CAc.3140A>G mutation in the patient's affected tissue allowing for PROS (PIK3CA-related overgrowth spectrum) diagnosis. The overlapping clinical features in overgrowth disorders highlight the importance of molecular testing for a correct diagnosis.