Tumour spectrum in <i>AKT1</i>-related Proteus syndrome: a systematic review of clinical reports and series.

ABSTRACT: AKT1-related Proteus syndrome is an ultra-rare mosaic overgrowth disorder with tumour predisposition. We conducted a systematic review to determine the range and characteristics of these tumours. A systematic review was conducted to identify clinical reports and clinical series of Proteus syndrome published between 1983 and 2023. Affected individuals were selected based on existing Proteus syndrome diagnostic criteria and expert review. Six databases were searched, and each unique record was screened independently by two authors. Two authors extracted the following data from each included report per individual: demographics, tumour diagnosis, characteristics, outcome, clinical features of Proteus syndrome and report of AKT1 genetic testing. The literature searches yielded 307

SUBMITTER: Rostagni OM 

PROVIDER: S-EPMC12107491 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature