PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report. Issue 7 (2nd June 2018)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Clinical case reports. Volume 6:Issue 7(2018)
• Page Start: 1358
• Page End: 1363
• Publication Date: 2018-06-02
• Subjects: Fibroadipose hyperplasia -- molecular testing -- next generation sequencing -- overgrowth syndromes -- PIK3CA; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1546
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. Abstract : 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.