{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T04:50:17Z","timestamp":1773809417079,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2015,5,6]],"date-time":"2015-05-06T00:00:00Z","timestamp":1430870400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Regione Lombardia Ricerca Indipendente","award":["DGS9269"],"award-info":[{"award-number":["DGS9269"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Tuberous Sclerosis Complex (TSC) is characterized by the presence of benign tumors in the brain, kidneys, heart, eyes, lungs, and skin. The typical brain lesions are cortical tubers, subependimal nodules and subependymal giant\u2010cell astrocytomas. The occurrence of malignant astrocytomas such as glioblastoma is rare. We report on a child with a clinical diagnosis of TSC and a rapidly evolving glioblastoma multiforme. Genetic analysis identified a de novo mutation in <jats:italic>TSC2<\/jats:italic>. Molecular characterization of the tumor was performed and discussed, as well as a review of the literature where cases of TSC and glioblastoma multiforme are described. Although the co\u2010occurrence of TSC and glioblastoma multiforme seems to be rare, this possible association should be kept in mind, and proper clinical and radiological follow up should be recommended in these patients. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37158","type":"journal-article","created":{"date-parts":[[2015,5,6]],"date-time":"2015-05-06T16:16:30Z","timestamp":1430928990000},"page":"2388-2393","source":"Crossref","is-referenced-by-count":15,"title":["Glioblastoma multiforme in a child with tuberous sclerosis complex"],"prefix":"10.1002","volume":"167","author":[{"given":"Aglaia","family":"Vignoli","sequence":"first","affiliation":[{"name":"Child Neurology Unit \u2010 Epilepsy Center Department of Health Science University of Milan San Paolo Hospital Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Lesma","sequence":"additional","affiliation":[{"name":"Laboratories of Pharmacology 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