Implications of a germline Peutz-Jeghers syndrome (STK11 gene) genetic test result

Implications of a germline Peutz-Jeghers syndrome (STK11 gene) genetic test result

This algorithm is only intended for individuals without a personal diagnosis of cancer or clinical features of a hamartomatous polyposis syndrome. Interpretations of pathogenicity may be revised as more data become available. It is especially important to seek this updated information periodically for a VUS. 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 in the STK11 gene and/or a strong family history of Peutz-Jeghers syndrome-associated cancers.

VUS: variant of uncertain significance.

* 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.

¶ 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 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).

◊ Cancers frequently associated with Peutz-Jeghers syndrome include gastrointestinal cancers (eg, colorectal, small intestine, stomach, pancreas) and extraintestinal cancers (eg, breast, ovary, cervix, testicular tumors). Refer to UpToDate for the age at which interventions are initiated, the frequency at which they are performed, and the evidence to support these interventions.

§ Refer to related UTD content for additional information.

¥ Peutz-Jeghers-type hamartomatous polyps of the gastrointestinal tract, or mucocutaneous hyperpigmentation of the mouth, lips, nose, eyes, genitalia, or fingers.

Graphic 130038 Version 3.0

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Implications of a germline Peutz-Jeghers syndrome (STK11 gene) genetic test result