PTEN-related hamartoma tumor syndromes (PHTS) arise from germline pathogenic variants in the Phosphatase and Tensin homolog (PTEN) gene and include a broad spectrum of autosomal dominant clinical phenotypes with overlapping features. Its diagnosis is made through genetic testing prompted by family history or clinical features. In pediatric patients the most common feature leading to genetic testing is macrocephaly, in combination with other clinical findings, presenting in early childhood. PHTS is a multisystem disorder. Imaging findings on pediatric patients have a wide variability, but benign findings are the most common. In this educational exhibit, we will summarize the imaging findings of pediatric patients with confirmed PTEN diagnosis, based on our experience from three large children’s hospitals. The most common findings will be described by anatomical regions: - Central nervous system: white matter lesions, prominence of perivascular spaces, prominence of the ventricles and extra-axial spaces, and a dysplastic gangliocytoma of the cerebellum. - Thyroid/neck: benign lesions such as nodular goiter, follicular adenomas, colloid cysts, and features of thyroiditis and pediatric thyroid carcinoma. - Chest/mediastinum: infrequent lesions such as sclerosing pneumocytoma or chest wall lesions. - Nonvascular soft tissue masses: variable types of hamartomas including polyps, fibromas, and lipomas. - Vascular soft tissue masses: hemangiomas and classic PTEN hamartoma of the soft tissues (PHOST). At the end of our exhibit, we will include current suggested surveillance imaging protocol for these patients. Read More

Meeting name: SPR 2023 Annual Meeting & Postgraduate Course , 2023

Authors: De Leon-benedetti Laura, Martinez-rios Claudia, Tierradentro-garcia Luis, Kilicarslan Ozge, Caro Domínguez Pablo, Otero Hansel

Keywords: Radiology, Genetics, Pediatrics