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A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.
Srivastava S, Jo B, Zhang B, Frazier T, Gallagher AS, Peck F, Levin AR, Mondal S, Li Z, Filip-Dhima R, Geisel G, Dies KA, Diplock A, Eng C, Hanna R, Sahin M, Hardan A; Developmental Synaptopathies Consortium. Srivastava S, et al. Hum Mol Genet. 2022 Oct 10;31(20):3393-3404. doi: 10.1093/hmg/ddac111. Hum Mol Genet. 2022. PMID: 35594551 Free PMC article. Clinical Trial.
PTEN hamartoma tumor syndrome (PHTS) is a complex neurodevelopmental disorder characterized by mechanistic target of rapamycin (mTOR) overactivity. ...No placebo-controlled studies have examined mTOR inhibition on cognition and behavior in humans with …
PTEN hamartoma tumor syndrome (PHTS) is a complex neurodevelopmental disorder characterized by mechanistic targe …
Sirolimus treatment of a PTEN hamartoma tumor syndrome presenting with melena.
Şahin GE, Hoşnut FÖ, Yeşil Ş, Lafcı NG, Gül AE, Şahin G. Şahin GE, et al. Turk J Pediatr. 2022;64(4):766-774. doi: 10.24953/turkjped.2021.5330. Turk J Pediatr. 2022. PMID: 36082652 Free article.
BACKGROUND: PTEN hamartoma tumor syndrome (PHTS) is an umbrella term including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome. ...CONCLUSIONS: Additionally, we …
BACKGROUND: PTEN hamartoma tumor syndrome (PHTS) is an umbrella term including Cowden syndrome (CS), Bannayan-Ri …
Unexpected actionable genetic variants revealed by multigene panel testing of patients with uterine cancer.
Heald B, Mokhtary S, Nielsen SM, Rojahn S, Yang S, Michalski ST, Esplin ED. Heald B, et al. Gynecol Oncol. 2022 Aug;166(2):344-350. doi: 10.1016/j.ygyno.2022.05.023. Epub 2022 Jun 9. Gynecol Oncol. 2022. PMID: 35691755 Free article.
OBJECTIVE: Hereditary uterine cancer (UC) is traditionally associated with pathogenic/likely pathogenic germline variants (PGVs) in Lynch syndrome genes or PTEN; however, growing evidence supports a role for other genes that may reveal new clinical management options. In t …
OBJECTIVE: Hereditary uterine cancer (UC) is traditionally associated with pathogenic/likely pathogenic germline variants (PGVs) in Lynch sy …
A phase II study of TAS-117 in patients with advanced solid tumors harboring germline PTEN-inactivating mutations.
Rodón J, Funchain P, Laetsch TW, Arkenau HT, Hervieu A, Singer CF, Murciano-Goroff YR, Chawla SP, Anthony K, Yamamiya I, Liu M, Halim AB, Benhadji KA, Takahashi O, Delaloge S. Rodón J, et al. Future Oncol. 2022 Sep;18(30):3377-3387. doi: 10.2217/fon-2022-0305. Epub 2022 Aug 30. Future Oncol. 2022. PMID: 36039910 Free PMC article.
PTEN acts as a potent tumor suppressor within the PI3K/AKT/mTOR pathway. Germline mutations in the PTEN gene are a hallmark of PTEN hamartoma tumor syndrome, which includes Cowden syndrome, where they appear to elevate lifetime risk of cancer. ...Cl …
PTEN acts as a potent tumor suppressor within the PI3K/AKT/mTOR pathway. Germline mutations in the PTEN gene are a hallmark of PTEN …
Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studies.
Schmid GL, Kässner F, Uhlig HH, Körner A, Kratzsch J, Händel N, Zepp FP, Kowalzik F, Laner A, Starke S, Wilhelm FK, Schuster S, Viehweger A, Hirsch W, Kiess W, Garten A. Schmid GL, et al. Pediatr Res. 2014 Apr;75(4):527-34. doi: 10.1038/pr.2013.246. Epub 2013 Dec 23. Pediatr Res. 2014. PMID: 24366516
BACKGROUND: Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is caused by germ line mutations in the PTEN gene. ...We furthermore assessed the in vitro effects of sirolimus and other inhibitors on lipoma cells of the patient. METHO …
BACKGROUND: Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is caused by germ line mutatio …
Resveratrol Potentiates Growth Inhibitory Effects of Rapamycin in PTEN-deficient Lipoma Cells by Suppressing p70S6 Kinase Activity.
Leipert J, Kässner F, Schuster S, Händel N, Körner A, Kiess W, Garten A. Leipert J, et al. Nutr Cancer. 2016;68(2):342-9. doi: 10.1080/01635581.2016.1145244. Epub 2016 Mar 4. Nutr Cancer. 2016. PMID: 26943752
Patients with phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome and germline mutations in PTEN frequently develop lipomatosis, for which there is no standard treatment. ...
Patients with phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome and germline mutations in PTEN freq …
Rapamycin treatment for a child with germline PTEN mutation.
Marsh DJ, Trahair TN, Martin JL, Chee WY, Walker J, Kirk EP, Baxter RC, Marshall GM. Marsh DJ, et al. Nat Clin Pract Oncol. 2008 Jun;5(6):357-61. doi: 10.1038/ncponc1112. Epub 2008 Apr 22. Nat Clin Pract Oncol. 2008. PMID: 18431376
INVESTIGATIONS: Physical examination, CT scans of the mediastinum, pelvis and abdomen, measurement of serum insulin-like growth factor binding protein-2, and investigation of the effect of the PTEN mutation on phosphatidylinositol 3-kinase/mammalian target of rapamycin signaling …
INVESTIGATIONS: Physical examination, CT scans of the mediastinum, pelvis and abdomen, measurement of serum insulin-like growth factor bindi …
The Way Forward for Mechanism-Based Therapeutics in Genetically Defined Neurodevelopmental Disorders.
Modi ME, Sahin M. Modi ME, et al. Clin Pharmacol Ther. 2018 Oct;104(4):603-606. doi: 10.1002/cpt.1181. Epub 2018 Aug 12. Clin Pharmacol Ther. 2018. PMID: 30101418 Free PMC article.
However, confidence in the therapeutic mechanism does not diminish the need for well-designed clinical trials....
However, confidence in the therapeutic mechanism does not diminish the need for well-designed clinical trials....