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. Author manuscript; available in PMC: 2013 Jan 15.
Published in final edited form as: Clin Cancer Res. 2012 Jan 15;18(2):400–407. doi: 10.1158/1078-0432.CCR-11-2283

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.