Clinical Implications for Germline PTEN Spectrum Disorders

Publication date: Available online 18 March 2017
Source:Endocrinology and Metabolism Clinics of North America
Author(s): Joanne Ngeow, Kaitlin Sesock, Charis Eng

Teaser

Patients with PTEN hamartoma tumor syndrome (PHTS) may present to a variety of different subspecialties with benign and malignant clinical features. They have increased lifetime risks of breast, endometrial, thyroid, renal, and colon cancers, as well as neurodevelopmental disorders such autism spectrum disorder. Patients and affected family members can be offered gene-directed surveillance and management. Patients who are unaffected can be spared unnecessary investigations. With longitudinal follow-up, we are likely to identify other noncancer manifestations associated with PHTS such as metabolic, immunologic, and neurologic features.


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