Author:
Caroleo Anna Maria,Rotulo Silvia,Agolini Emanuele,Macchiaiolo Marina,Boccuto Luigi,Antonelli Manila,Colafati Giovanna Stefania,Cacchione Antonella,Megaro Giacomina,Carai Andrea,De Ioris Maria Antonietta,Lodi Mariachiara,Tornesello Assunta,Simone Valeria,Torroni Filippo,Cinalli Giuseppe,Mastronuzzi Angela
Abstract
Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a cancer predisposition syndrome characterized by an increased risk of developing benign and malignant tumors, caused by germline pathogenic variants of the PTEN tumour suppressor gene. PTEN gene variants often present in childhood with macrocephaly, developmental delay, and/or autism spectrum disorder while tumors and intestinal polyps are commonly detected in adults. PHTS is rarely associated with childhood brain tumors with only two reported cases of medulloblastoma (MB). We report the exceptional case of an infant carrying a germline and somatic pathogenic variant of PTEN and a germline and somatic pathogenic variant of CHEK2 who developed a MB SHH in addition to intestinal polyposis.
Subject
Cellular and Molecular Neuroscience,Molecular Biology
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