| Rapamycin treatment for a child with germline PTEN mutation. | |
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MedLine Citation:
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PMID: 18431376 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: A 9-month-old boy with Proteus syndrome and a de novo germline mutation in the tumor suppressor PTEN was referred to a specialist centre for management. Over the first years of life, the patient developed life-threatening respiratory dysfunction and malnutrition because of progressive growth of hamartomas affecting the chest, mediastinum, abdomen and pelvis. 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 in an in vitro cell model. DIAGNOSIS: PTEN hamartoma tumor syndrome, specifically Proteus syndrome. MANAGEMENT: Oral rapamycin. |
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Authors:
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Deborah J Marsh; Toby N Trahair; Janet L Martin; Wey Yeeng Chee; Jan Walker; Edwin P Kirk; Robert C Baxter; Glenn M Marshall |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2008-04-22 |
Journal Detail:
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Title: Nature clinical practice. Oncology Volume: 5 ISSN: 1743-4262 ISO Abbreviation: - Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-05-30 Completed Date: 2008-08-05 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 101226509 Medline TA: Nat Clin Pract Oncol Country: England |
Other Details:
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Languages: eng Pagination: 357-61 Citation Subset: IM |
Affiliation:
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Kolling Institute of Medical Research, University of Sydney and Royal North Shore Hospital, Sydney, NSW, Australia. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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1-Phosphatidylinositol 3-Kinase
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metabolism Antibiotics, Antineoplastic / therapeutic use* Child Germ-Line Mutation / genetics* Hamartoma Syndrome, Multiple / drug therapy*, genetics*, metabolism Humans Insulin-Like Growth Factor Binding Protein 2 / blood Male PTEN Phosphohydrolase / genetics* Protein Kinases / genetics Sirolimus / therapeutic use* |
| Chemical | |
Reg. No./Substance:
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0/Antibiotics, Antineoplastic; 0/Insulin-Like Growth Factor Binding Protein 2; 53123-88-9/Sirolimus; EC 2.7.-/Protein Kinases; EC 2.7.1.-/mTOR protein; EC 2.7.1.137/1-Phosphatidylinositol 3-Kinase; EC 3.1.3.48/PTEN protein, human; EC 3.1.3.67/PTEN Phosphohydrolase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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