PIK3CA ‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation
National Institutes of Health · National Human Genome Research Institute · +6 more institutions
Abstract
Somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway underlie heterogeneous segmental overgrowth phenotypes. Because of the extreme differences among patients, we sought to characterize the phenotypic spectrum associated with different genotypes and mutation burdens, including a better understanding of associated complications and natural history. Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO), Hemihyperplasia Multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal (CLOVES) syndrome, macrodactyly, Fibroadipose…
Citation impact
- FWCI
- 23.56
- Percentile
- 100%
- References
- 33
Authors
10- KMKim M. Keppler‐NoreuilCorresponding
National Institutes of Health, National Human Genome Research Institute
- JJJonathan J. Rios
Texas Scottish Rite Hospital for Children, Southwestern Medical Center, The University of Texas Southwestern Medical Center
- VPVictoria Parker
- RKRobert K. Semple
- MJMarjorie J. Lindhurst
National Institutes of Health, National Human Genome Research Institute
Topics & keywords
- Megalencephaly
- Lipomatosis
- Proteus syndrome
- Genetic testing
- Medicine
- Bioinformatics
- Pediatrics
- Pathology