Journal
DERMATOLOGIC CLINICS
Volume 35, Issue 1, Pages 51-+Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.det.2016.07.001
Keywords
Mosaicism; mTORC1; PIK3CA-related overgrowth spectrum; Proteus syndrome; Tuberous sclerosis complex; PTEN hamartoma tumor syndrome; Next-generation sequencing; Sirolimus
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Funding
- Intramural Research Program, National Institutes of Health, National Heart, Lung, and Blood Institute
- Intramural Research Program of the National Human Genome Research Institute
- National Institutes of Health [R01 AR062080]
- Doris Duke Charitable Foundation Clinical Research Mentorship grant [2014088]
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Somatic mutations in genes of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway cause segmental overgrowth, hamartomas, and malignant tumors. Mosaicism for activating mutations in AKT1 or PIK3CA cause Proteus syndrome and PIK3CA-Related Overgrowth Spectrum, respectively. Postzygotic mutations in PTEN or TSC1/TSC2 cause mosaic forms of PTEN hamartoma tumor syndrome or tuberous sclerosis complex, respectively. Distinct features observed in these mosaic conditions in part reflect differences in embryological timing or tissue type harboring the mutant cells. Deep sequencing of affected tissue is useful for diagnosis. Drugs targeting mTORC1 or other points along this signaling pathway are in clinical trials to treat these disorders.
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