ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2016
Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 144 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
144 citing papers in PubMed, 262 citations in OpenAlex.
- Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Trial
- Clinical and molecular characterization of non-PIK3CA-related vascular malformations with overgrowth in a pediatric cohort.World journal of pediatrics : WJP · 2026Article
- Correlations between TSC Expression and Menorrhagia in Adenomyosis Patients.Reproductive sciences (Thousand Oaks, Calif.) · 2026Article
- Chronic Lithium Exposure Reshapes PI3K-mTOR-linked Proteostatic Networks in the Hippocampus of an Alzheimer's Disease Mouse Model.Molecular neurobiology · 2026Article
- Quercetin attenuates deoxynivalenol-induced muscle developmental disorders in broilers by modulating the PI3K/Akt/mTOR pathway and reducing apoptosis.Poultry science · 2026Article
- Drug resistant epilepsy driven byEpilepsy & behavior reports · 2026Article
- Multidisciplinary management of pediatric head and neck lymphatic malformations: a 10-year single-institution experience.International journal of pediatric otorhinolaryngology · 2026Article
- Polarized SOS activity orchestrates FGF-directed cell migration in vivo.Current biology : CB · 2026Article
- Complex Management of High-Flow Gastrointestinal Arteriovenous Malformation With Chronic Portomesenteric Thrombosis in PTEN Hamartoma Tumor Syndrome.ACG case reports journal · 2026Article
- Multidisciplinary management promoting wound healing in a patient with Proteus syndrome: a case report.Frontiers in pediatrics · 2026Article
- Madelung Disease of the Scrotal Region: A Case Report.IJU case reports · 2026Article
- Precision diagnostic and therapeutic interventions in rare genetic neurodevelopmental disorders.Pediatric research · 2025Review
- Antiproliferative Potential of Linagliptin-Rivaroxaban Mixture in Cervical Cancer: Mechanistic Insights into Targeting Mutant MAPK, RAS kinase Signal Protein.Asian Pacific journal of cancer prevention : APJCP · 2025Article
- PIEZO2 is the underlying mediator for precise magnetic stimulation of PVN to improve autism-like behavior in mice.Journal of nanobiotechnology · 2025Article
- A real-world study of sirolimus in the treatment of pediatric head and neck lymphatic malformations.Journal of vascular surgery. Venous and lymphatic disorders · 2025Article
- The PI3K/Akt pathway: a target for curcumin's therapeutic effects.Journal of diabetes and metabolic disorders · 2025Review
- Association of Genetic Variations in The PIK3-AKT-mTOR Pathway with Endometriosis Susceptibility: A Preliminary Case-Control Study.International journal of fertility & sterility · 2025Article
- Cancer and disease profiles for PTEN pathogenic variants in Japanese population.Journal of human genetics · 2025Article
- PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.Nature neuroscience · 2025Article
- Article
84 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 4 institutions in 2 countries.
Funding
Abstract
The phosphatidylinositol-3-kinase (PI3K)/AKT/mTOR signaling pathway plays an essential role in regulation of normal cell growth, metabolism, and survival. Somatic activating mutations in the PI3K/AKT/mTOR pathway are among the most common mutations identified in cancer, and have been shown to cause a spectrum of overgrowth syndromes including PIK3CA-Related Overgrowth Spectrum, Proteus syndrome, and brain overgrowth conditions. Clinical findings in these disorders may be isolated or multiple, including sporadic or mosaic overgrowth (adipose, skeletal, muscle, brain, vascular, or lymphatic), and skin abnormalities (including epidermal nevi, hyper-, and hypopigmented lesions), and have the potential risk of tumorigenesis. Key negative regulators of the PI3K-AKT signaling pathway include PTEN and TSC1/TSC2 and germline loss-of function mutations of these genes are established to cause PTEN Hamartoma Tumor Syndrome and Tuberous Sclerosis Complex. Mosaic forms of these conditions lead to increased activation of PI3K and mTOR at affected sites and there is phenotypic overlap between these conditions. All are associated with significant morbidity with limited options for treatment other than symptomatic therapies and surgeries. As dysregulation of the PI3K/AKT/mTOR pathway has been implicated in cancer, several small molecule inhibitors targeting different components of the PI3K/AKT/mTOR signaling pathway are under clinical investigation. The development of these therapies brings closer the prospect of targeting treatment for somatic PI3K/AKT/mTOR-related overgrowth syndromes. This review describes the clinical findings, gene function and pathogenesis of these mosaic overgrowth syndromes, and presents existing and future treatment strategies to reduce or prevent associated complications of these disorders. © 2016 Wiley Periodicals, Inc.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.