Article
The clinical and phenotypic spectrum of PTEN hamartoma tumor syndrome: a retrospective cohort study.
Familial cancer - 17 Sept 2026
Ritter Einat, Shtaya Aasem Abu, Kariv Revital, Lieberman Sari, Half Elizabeth, Postnikov Maria, Rosner Guy, Strul Hana, Gluck Nathan, Katz Lior, Levy-Lahad Ephrat, May Dalit, Laish Ido, Goldberg Yael, Vainer Elez, Levi Zohar, Golan Maya Aharoni
Abstract excerpt
PTEN Hamartoma Tumor Syndrome (PHTS) is a rare condition characterized by a complex phenotype including gastrointestinal hamartomas and increased lifetime malignancy risk. To characterize the clinical phenotype, genetic landscape, and spectrum of malignancies within a large cohort of adult PHTS carriers. A retrospective cohort study of adult patients (≥ 18 years) followed at specialized high-risk clinics who met...
Read the complete abstract on PubMedTopics
- Humans
- Hamartoma Syndrome, Multiple
- PTEN Phosphohydrolase
- Female
- Retrospective Studies