Clinical Implications for Germline PTEN Spectrum Disorders

Joanne Ngeow; Kaitlin Sesock; Charis Eng

doi:10.1016/j.ecl.2017.01.013

Clinical Implications for Germline PTEN Spectrum Disorders

Endocrinol Metab Clin North Am. 2017 Jun;46(2):503-517. doi: 10.1016/j.ecl.2017.01.013. Epub 2017 Mar 18.

Authors

Joanne Ngeow¹, Kaitlin Sesock², Charis Eng³

Affiliations

¹ Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre, 11 Hospital Drive, Singapore 169610, Singapore; Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH 44195, USA.
² Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH 44195, USA; Lerner Research Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH 44195, USA; Taussig Cancer Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH 44195, USA.
³ Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH 44195, USA; Lerner Research Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH 44195, USA; Taussig Cancer Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH 44195, USA; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, 10900 Euclid Avenue, Cleveland, OH 44106, USA; Germline High Risk Focus Group, CASE Comprehensive Cancer Center, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106, USA. Electronic address: engc@ccf.org.

PMID: 28476234
DOI: 10.1016/j.ecl.2017.01.013

Abstract

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.

Keywords: Cowden syndrome; PTEN; PTEN hamartoma tumor syndrome.

Publication types

Review

MeSH terms

Autism Spectrum Disorder / complications
Germ-Line Mutation
Hamartoma Syndrome, Multiple / genetics*
Humans
Neoplasms / complications
PTEN Phosphohydrolase / genetics*

Substances

PTEN Phosphohydrolase