Medulloblastoma and Down Syndrome: An Extremely Rare Association

Medulloblastoma has a reduced incidence in Down syndrome (DS). This protective characteristic has not been clarified yet. Here, we report the second case of SHH medulloblastoma and DS documented in the literature. A complete surgery was performed followed by reduced craniospinal irradiation dose and...

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Published inJournal of pediatric hematology/oncology
Main Authors Baroni, Lorena V, Munoz Cassina, Tamara, Fernandez Ponce, Nicolas, Pinto, Natalia, Vazquez, Valeria, Lubieniecki, Fabiana, Alderete, Daniel
Format Journal Article
LanguageEnglish
Published United States 01.10.2022
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Summary:Medulloblastoma has a reduced incidence in Down syndrome (DS). This protective characteristic has not been clarified yet. Here, we report the second case of SHH medulloblastoma and DS documented in the literature. A complete surgery was performed followed by reduced craniospinal irradiation dose and adjuvant chemotherapy. No evidence of tumor recurrence was observed. The overall survival was 9.1 years. No family history or physical stigma of other hereditary predisposition syndrome was found. In the elucidation of this extremely rare association, future case reports play an important role in defining the spectrum of brain tumors and their peculiar features in DS.
ISSN:1536-3678
DOI:10.1097/MPH.0000000000002448