Molecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review
Marco Ranalli,
Alessandra Boni,
Anna Maria Caroleo,
Giada Del Baldo,
Martina Rinelli,
Emanuele Agolini,
Sabrina Rossi,
Evelina Miele,
Giovanna Stefania Colafati,
Luigi Boccuto,
Iside Alessi,
Maria Antonietta De Ioris,
Antonella Cacchione,
Rossella Capolino,
Andrea Carai,
Sabina Vennarini,
Angela Mastronuzzi
Affiliations
Marco Ranalli
Department of Pediatrics, Sapienza University, Viale Regina Elena 324, 00161 Rome, Italy
Alessandra Boni
Department of Pediatrics, Sapienza University, Viale Regina Elena 324, 00161 Rome, Italy
Anna Maria Caroleo
Department of Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children’s Hospital (IRCCS), 00165 Rome, Italy
Giada Del Baldo
Department of Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children’s Hospital (IRCCS), 00165 Rome, Italy
Martina Rinelli
Laboratory of Medical Genetics, Bambino Gesù Children’s Hospital (IRCCS), 00165 Rome, Italy
Emanuele Agolini
Laboratory of Medical Genetics, Bambino Gesù Children’s Hospital (IRCCS), 00165 Rome, Italy
Sabrina Rossi
Pathology Unit, Department of Laboratories, Bambino Gesù Children’s Hospital (IRCCS), 00165 Rome, Italy
Evelina Miele
Department of Pediatrics, Sapienza University, Viale Regina Elena 324, 00161 Rome, Italy
Giovanna Stefania Colafati
Neuroradiology Unit, Department of Imaging, Bambino Gesù Children’s Hospital (IRCCS), 00165 Rome, Italy
Luigi Boccuto
School of Nursing, College of Behavioral, Social and Health Sciences Healthcare Genetics Interdisciplinary Doctoral Program, Clemson University, Clemson, SC 29631, USA
Iside Alessi
Department of Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children’s Hospital (IRCCS), 00165 Rome, Italy
Maria Antonietta De Ioris
Department of Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children’s Hospital (IRCCS), 00165 Rome, Italy
Antonella Cacchione
Department of Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children’s Hospital (IRCCS), 00165 Rome, Italy
Rossella Capolino
Medical Genetics Unit, Bambino Gesù Children Hospital, Bambino Gesù Children’s Hospital (IRCCS), 00165 Rome, Italy
Andrea Carai
Neurosurgery Unit, Department of Neurosciences, Bambino Gesù Children’s Hospital (IRCCS), 00165 Rome, Italy
Sabina Vennarini
Proton Therapy Center, Hospital of Trento, Azienda Provinciale per I Servizi Sanitari (APSS), 38122 Trento, Italy
Angela Mastronuzzi
Department of Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children’s Hospital (IRCCS), 00165 Rome, Italy
Brain tumors are the most common solid neoplasms of childhood. They are frequently reported in children with Neurofibromatosis type 1 (NF1). The most frequent central nervous system malignancies described in NF1 are optic pathway gliomas and brainstem gliomas. Medulloblastoma (MB) in NF1 patients is extremely rare, and to our knowledge, only 10 cases without molecular characterization are described in the literature to date. We report the case of a 14-year-old girl with NF1 that came to our attention for an incidental finding of a lesion arising from cerebellar vermis. The mass was completely resected, revealing a localized classic medulloblastoma (MB), subgroup 4. She was treated as a standard-risk MB with a dose-adapted personalized protocol. The treatment proved to be effective, with minor toxicity. Brain and spine MRI one year after diagnosis confirmed the complete remission of the disease. To our knowledge, this is the only case of MB reported in a patient with NF1 with molecular characterization by the methylation profile. The association between NF1 and MB, although uncommon, may not be an accidental occurrence.
