Interpretation of germline genetic testing for PTEN gene

Interpretation of germline genetic testing for PTEN gene

Ensure that the genetic testing is performed properly, the patient identification is correct, and the interpretation of pathogenicity is accurate based on the most recent data analysis. Discussion with a genetic counselor and/or an expert in hereditary syndromes is likely to be appropriate for most individuals with a pathogenic or likely pathogenic variant and/or a strong family history of PTEN hamartoma tumor syndrome associated clinical manifestations. Refer to other UpToDate content for additional details, including the starting age and frequency of interventions and screening.

PHTS: PTEN hamartoma tumor syndromes; PTEN: phosphatase and tensin homolog; VUS: variant of uncertain significance.

* Germline pathogenic variants in the PTEN gene have been described in a variety of rare syndromes with different clinical presentations that are collectively known as PHTS. The defining clinical feature of PHTS is the presence of hamartomatous lesions, which are disorganized growths of native cells in native tissues. The phenotypic spectrum PHTS includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, adult Lhermitte-Duclos disease, Proteus-like syndrome, and autism spectrum disorder with macrocephaly.

¶ Pathogenic and likely pathogenic variants are treated the same for purposes of surveillance and risk reduction interventions; these interventions are independent of family history.

Δ Refer to UpToDate content on PTEN for the revised PTEN hamartoma tumor syndrome clinical diagnostic criteria.

◊ VUS lack sufficient information from clinical and bench research to be classified as pathogenic or benign. Continue to seek updated interpretation of pathogenicity periodically (eg, annually).

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Interpretation of germline genetic testing for PTEN gene