Article
Deep Phenotyping of Pathology-Confirmed Benign Lesions in PTEN Hamartoma Tumor Syndrome Patients.
Clinical genetics - 1 Oct 2025
Schei-Andersen Ane J, Schuurs-Hoeijmakers Janneke H M, van der Post Rachel, Mensenkamp Arjen R, Schieving Jolanda, Vos Janet R, Hoogerbrugge Nicoline
Abstract excerpt
PTEN Hamartoma Tumor Syndrome (PHTS) is a rare hereditary syndrome. PHTS has a variable phenotype characterized by benign lesions and increased cancer risks. Clarifying the extent of the benign phenotype could facilitate early recognition of PHTS patients before cancer development. Therefore, we assessed the spectrum, frequency, and age of excerpt of pathology-confirmed benign lesions in PHTS patients. Pathology...
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