title: Glioblastoma multiforme in a child with tuberous sclerosis complex.
abstract: 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-cell 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 TSC2. 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-occurrence 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.
authors.affiliation: Child Neurology Unit - Epilepsy Center, Department of Health Science, University of Milan, San Paolo Hospital, Milano, Italy.
authors.forename: Aglaia
authors.initials: A
authors.lastname: Vignoli
authors.affiliation: Laboratories of Pharmacology, Department of Health Science, University of Milan, Milano, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Lesma
authors.affiliation: Department of Human Pathology, Cytogenetic and Molecular Pathology, Department of Health Science, San Paolo Hospital, Milano, Italy.
authors.forename: Rosa Maria
authors.initials: RM
authors.lastname: Alfano
authors.affiliation: Child Neurology Unit - Epilepsy Center, Department of Health Science, University of Milan, San Paolo Hospital, Milano, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Peron
authors.affiliation: Child Neurology Unit - Epilepsy Center, Department of Health Science, University of Milan, San Paolo Hospital, Milano, Italy.
authors.forename: Giulia Federica
authors.initials: GF
authors.lastname: Scornavacca
authors.affiliation: Pediatric Unit, Department of Hematology and Pediatric Oncoematology, Fondazione IRCCS, Istituto Nazionale dei Tumori, Milano, Italy.
authors.forename: Maura
authors.initials: M
authors.lastname: Massimino
authors.affiliation: Pediatric Unit, Department of Hematology and Pediatric Oncoematology, Fondazione IRCCS, Istituto Nazionale dei Tumori, Milano, Italy.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Schiavello
authors.affiliation: Laboratories of Pharmacology, Department of Health Science, University of Milan, Milano, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Ancona
authors.affiliation: Department of Pathology, Ospedale di Circolo, Varese, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Cerati
authors.affiliation: Department of Human Pathology, Cytogenetic and Molecular Pathology, Department of Health Science, San Paolo Hospital, Milano, Italy.
authors.forename: Gaetano
authors.initials: G
authors.lastname: Bulfamante
authors.affiliation: Laboratories of Pharmacology, Department of Health Science, University of Milan, Milano, Italy.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Gorio
authors.affiliation: Child Neurology Unit - Epilepsy Center, Department of Health Science, University of Milan, San Paolo Hospital, Milano, Italy.
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Canevini
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D001921:Brain / Q000187:drug effects / Q000378:metabolism / Q000473:pathology / Q000528:radiation effects; D001932:Brain Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D002648:Child; D017809:Fatal Outcome; D005720:Gamma Rays / Q000627:therapeutic use; D015870:Gene Expression; D005909:Glioblastoma / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D006801:Humans; D008297:Male; D009154:Mutation; D014402:Tuberous Sclerosis / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D000970:Antineoplastic Agents; C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
keywords: Glioblastoma multiforme; TSC; Tuberous Sclerosis Complex; children; follow-up MR; tumors