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Diagnostic challenges in PTEN hamartoma tumor syndrome

Alma Hoxhaj, MD, Radboud University Medical Center, Nijmegen, Netherlands, discusses the difficulties faced in the diagnosis of PTEN hamartoma tumor syndrome (PHTS). The rarity of PHTS makes it challenging to identify, meaning many patients are not diagnosed until they present with malignancies. Early diagnosis is important to allow for effective surveillance. Additionally, since patients with PHTS are prone to the occurrence of benign lesions, distinguishing malignant and benign lesions during surveillance can be a challenge. This interview took place during the 17th St. Gallen International Breast Cancer Conference.