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 

TITLE=SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome

JOURNAL=Frontiers in Molecular Neuroscience

VOLUME=16

YEAR=2023

URL=https://www.frontiersin.org/journals/molecular-neuroscience/articles/10.3389/fnmol.2023.1228389

DOI=10.3389/fnmol.2023.1228389

ISSN=1662-5099

ABSTRACT=<p>Phosphatase and tensin homolog (<italic>PTEN</italic>) 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 <italic>PTEN</italic> tumour suppressor gene. <italic>PTEN</italic> 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 <italic>PTEN</italic> and a germline and somatic pathogenic variant of <italic>CHEK2</italic> who developed a MB SHH in addition to intestinal polyposis.</p>