Journal
ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA
Volume 46, Issue 2, Pages 503-+Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.ecl.2017.01.013
Keywords
PTEN; PTEN hamartoma tumor syndrome; Cowden syndrome
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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 as 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 non-cancer manifestations associated with PHTS such as metabolic, immunologic, and neurologic features.
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