How is PHTS/Cowden syndrome diagnosed?

PHTS is diagnosed when a mutation is found in the PTEN gene. The International Cowden Consortium has developed criteria (guidelines) to establish a diagnosis of Cowden syndrome. Additionally, both the National Comprehensive Cancer Network and Cleveland Clinic have established genetic testing guidelines for PHTS/Cowden syndrome. These are updated frequently based on new research.

A PHTS/Cowden syndrome evaluation should be considered for people with adult-onset Lhermitte-Duclos disease, macrocephaly plus autism/developmental delay, numerous and mixed types of gastrointestinal polyps or a combination of PHTS/Cowden syndrome features, such as thyroid and uterine cancers or breast and kidney cancers.

If a patient is found to meet clinical or testing criteria, testing of the PTEN gene may be offered. Genetic testing is done through a blood sample. Once a mutation is identified in a patient, family members can be tested for that mutation in order to determine who else in the family has PHTS.

Last reviewed by a Cleveland Clinic medical professional on 01/02/2019.

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