TABLE 4. Recommendations for Diagnostic Workup and Cancer Surveillance in Patients with PTEN mutations.
Pediatric (<18 years) | Adult Male | Adult Female | |
---|---|---|---|
Baseline Workup | Targeted History and Physical Examination Baseline Thyroid Ultrasound Dermatologic Examination Formal neurologic and psychological testing |
Targeted History and Physical Examination Baseline Thyroid Ultrasound Dermatologic Examination |
Targeted History and Physical Examination Baseline Thyroid Ultrasound Dermatologic Examination |
Cancer Surveillance | |||
From diagnosis | Annual Thyroid Ultrasound and Skin Examination | Annual Thyroid Ultrasound and Skin Examination | Annual Thyroid Ultrasound and Skin Examination |
From age 30* | As per adult recommendations | Annual mammogram (for consideration of breast MRI instead of mammography if dense breasts) Annual endometrial sampling or transvaginal ultrasound (or from 5 years before age of earliest endometrial cancer) |
|
From age 40* | As per adult recommendations | Biannual colonoscopy** Biannual renal ultrasound / MRI |
Biannual colonoscopy** Biannual renal ultrasound / MRI |
Prophylactic Surgery | Nil | Nil | Individual discussion of prophylactic mastectomy or hysterectomy. |
Surveillance may begin 5 years before the earliest onset of a specific cancer in the family, but not later than the recommended age cutoff.
The presence of multiple non-malignant polyps in patients with PTEN mutations may complicate non-invasive methods of colon evaluation. More frequent colonoscopy should be considered for patients with a heavy polyp burden.