Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis.

Down syndrome brain tumor cancer predisposition syndrome medulloblastoma

Journal

Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402

Informations de publication

Date de publication:
07 Feb 2021
Historique:
received: 08 01 2021
revised: 29 01 2021
accepted: 01 02 2021
entrez: 10 2 2021
pubmed: 11 2 2021
medline: 11 2 2021
Statut: epublish

Résumé

Down syndrome (DS) is the most common chromosome abnormality with a unique cancer predisposition syndrome pattern: a higher risk to develop acute leukemia and a lower incidence of solid tumors. In particular, brain tumors are rarely reported in the DS population, and biological behavior and natural history are not well described and identified. We report a case of a 10-year-old child with DS who presented with a medulloblastoma (MB). Histological examination revealed a classic MB with focal anaplasia and the molecular profile showed the presence of a

Identifiants

pubmed: 33562188
pii: diagnostics11020254
doi: 10.3390/diagnostics11020254
pmc: PMC7915142
pii:
doi:

Types de publication

Case Reports

Langues

eng

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Auteurs

Alessandra Boni (A)

Department of Pediatrics, Sapienza University, Viale Regina Elena 324, 00161 Rome, Italy.

Marco Ranalli (M)

Department of Pediatrics, Sapienza University, Viale Regina Elena 324, 00161 Rome, Italy.

Giada Del Baldo (G)

Department of Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children's Hospital IRCCS, Piazza Sant'Onofrio 4, 00146 Rome, Italy.

Roberto Carta (R)

Department of Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children's Hospital IRCCS, Piazza Sant'Onofrio 4, 00146 Rome, Italy.

Mariachiara Lodi (M)

Department of Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children's Hospital IRCCS, Piazza Sant'Onofrio 4, 00146 Rome, Italy.

Emanuele Agolini (E)

Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Piazza Sant'Onofrio 4, 00146 Rome, Italy.

Martina Rinelli (M)

Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Piazza Sant'Onofrio 4, 00146 Rome, Italy.

Diletta Valentini (D)

Pediatric and Infectious Disease Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00146 Rome, Italy.

Sabrina Rossi (S)

Department of Laboratories, Pathology Unit, Bambino Gesù Children's Hospital, Piazza Sant'Onofrio 4, 00146 Rome, Italy.

Viola Alesi (V)

Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Piazza Sant'Onofrio 4, 00146 Rome, Italy.

Antonella Cacchione (A)

Department of Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children's Hospital IRCCS, Piazza Sant'Onofrio 4, 00146 Rome, Italy.

Evelina Miele (E)

Department of Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children's Hospital IRCCS, Piazza Sant'Onofrio 4, 00146 Rome, Italy.

Iside Alessi (I)

Department of Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children's Hospital IRCCS, Piazza Sant'Onofrio 4, 00146 Rome, Italy.

Anna Maria Caroleo (AM)

Department of Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children's Hospital IRCCS, Piazza Sant'Onofrio 4, 00146 Rome, Italy.

Giovanna Stefania Colafati (GS)

Neuroradiology Unit, Department of Imaging, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00146 Rome, Italy.

Maria Antonietta De Ioris (MA)

Department of Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children's Hospital IRCCS, Piazza Sant'Onofrio 4, 00146 Rome, Italy.

Luigi Boccuto (L)

School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC 29634, USA.
JC Self Research Institute of the Greenwood Genetic Center, Greenwood, SC 29646, USA.

Mario Balducci (M)

Department of Imaging, Radiation Oncology and Haematology, Policlinico A. Gemelli Fundation, IRCCS, Catholic University of Sacred Heart, Largo A. Gemelli 1, 00168 Rome, Italy.

Andrea Carai (A)

Neurosurgery Unit, Department of Neurological and Psychiatric Sciences, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00146 Rome, Italy.

Angela Mastronuzzi (A)

Department of Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children's Hospital IRCCS, Piazza Sant'Onofrio 4, 00146 Rome, Italy.

Classifications MeSH