SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome
Anna Maria Caroleo,
Silvia Rotulo,
Emanuele Agolini
et al.
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 re… Show more
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