title: Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor.
abstract: Medulloblastoma is the most common pediatric brain tumor. We describe a child with tuberous sclerosis complex that developed a Group 3, myc overexpressed, metastatic medulloblastoma (MB). Considering the high risk of treatment-induced malignancies, a tailored therapy, omitting radiation, was given. Based on the evidence of mammalian target of rapamycin mTORC, mTOR Complex; RAS, Rat sarcoma; RAF, rapidly accelerated fibrosarcoma (mTOR) pathway activation in the tumor, targeted therapy was applied resulting in complete remission of disease. Although the PI3K/AKT/mTOR signaling pathway plays a role in MB, we did not find TSC1/TSC2 (TSC, tuberous sclerosis complex) mutation in our patient. We speculate that a different pathway resulting in mTOR activation is the basis of both TSC and MB in this child; H&E, haematoxilin and eosin; Gd, gadolinium.
authors.affiliation: Neuroscience and Neurorehabilitation Department, Neurology Unit, Bambino Gesù Children's Hospital, , IRCCS, Rome, Italy.|Systems Medicine Department, Child Neurology and Psychiatry Unit, Tor Vergata University Hospital of Rome, Rome, Italy.
authors.forename: Romina
authors.initials: R
authors.lastname: Moavero
authors.affiliation: Department of Hematology/Oncology and Stem Cell Transplantation, Bambino Gesù Children's Hospital, , IRCCS, Rome, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Folgiero
authors.affiliation: Department of Neuroscience and Neurorehabilitation, Neurosurgery Unit, Bambino Gesù Children's Hospital, , IRCCS, Rome, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Carai
authors.affiliation: Department of Molecular Medicine, Sapienza University, Rome, Italy.|Center for Life NanoScience@Sapienza, Istituto Italiano di Tecnologia, Rome, Italy.
authors.forename: Evelina
authors.initials: E
authors.lastname: Miele
authors.affiliation: Department of Molecular Medicine, Sapienza University, Rome, Italy.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Ferretti
authors.affiliation: Department of Molecular Medicine, Sapienza University, Rome, Italy.
authors.forename: Agnese
authors.initials: A
authors.lastname: Po
authors.affiliation: Department of Laboratories - Pathology Unit Bambino Gesù Children's Hospital, , IRCCS, Rome, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Diomedi Camassei
authors.affiliation: Department of Laboratories, Medical Genetics laboratory, Bambino Gesù Children's Hospital, , IRCCS, Rome, Italy.
authors.forename: Francesca Romana
authors.initials: FR
authors.lastname: Lepri
authors.affiliation: Neuroscience and Neurorehabilitation Department, Neurology Unit, Bambino Gesù Children's Hospital, , IRCCS, Rome, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
authors.affiliation: Systems Medicine Department, Child Neurology and Psychiatry Unit, Tor Vergata University Hospital of Rome, Rome, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Curatolo
authors.affiliation: Neuroscience and Neurorehabilitation Department, Neurology Unit, Bambino Gesù Children's Hospital, , IRCCS, Rome, Italy.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Valeriani
authors.affiliation: Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, , IRCCS, Rome, Italy.
authors.forename: Giovanna S
authors.initials: GS
authors.lastname: Colafati
authors.affiliation: Department of Hematology/Oncology and Stem Cell Transplantation, Bambino Gesù Children's Hospital, , IRCCS, Rome, Italy.|Department of Pediatric Science, University of Pavia, Italy.
authors.forename: Franco
authors.initials: F
authors.lastname: Locatelli
authors.affiliation: Department of Pediatrics, "Università Cattolica del Sacro Cuore,", Rome, Italy.
authors.forename: Assunta
authors.initials: A
authors.lastname: Tornesello
authors.affiliation: Department of Hematology/Oncology and Stem Cell Transplantation, Bambino Gesù Children's Hospital, , IRCCS, Rome, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Mastronuzzi
mesh_terms: D015153:Blotting, Western; D002528:Cerebellar Neoplasms / Q000150:complications / Q000235:genetics / Q000473:pathology*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008527:Medulloblastoma / Q000150:complications / Q000235:genetics / Q000473:pathology*; D058570:TOR Serine-Threonine Kinases / Q000096:biosynthesis; D014402:Tuberous Sclerosis / Q000150:complications* / Q000235:genetics
chemical_list: C546842:MTOR protein, human; D058570:TOR Serine-Threonine Kinases
keywords: TSC1/2; mTOR; medulloblastoma