Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?

Table 5

Recommendations for diagnostic workup and cancer surveillance in patients with PTEN mutations. (Adapted from [44]).

	Paediatric (<18 years)	Adult female	Adult male
Baseline workup	(i) Targeted history and physical examination; (ii) Baseline thyroid ultrasound; (iii) Dermatologic examination; (iv) Formal neurologic and psychological testing	(i) Targeted history and physical examination; (ii) Baseline thyroid ultrasound; (iii) Dermatologic examination	(i) Targeted history and physical examination; (ii) Baseline thyroid ultrasound; (iii) Dermatologic examination
Cancer surveillance
From diagnosis	(i) Annual thyroid ultrasound; (ii) Skin examination	(i) Annual thyroid ultrasound; (ii) Skin examination	(i) Annual thyroid ultrasound; (ii) Skin examination
From age 30	As per adult recommendations	(i) Annual mammogram (for consideration of breast MRI instead of mammography if dense breasts); (ii) Annual endometrial sampling or transvaginal ultrasound (or from 5 years before age of earliest endometrial cancer)
From age 40	As per adult recommendations	(i) Biannual colonoscopy^**; (ii) Biannual renal ultrasound/MRI	(i) Biannual colonoscopy^**; (ii) Biannual renal ultrasound/MRI
Prophylactic surgery	Nil.

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 nonmalignant polyps in patients with PTEN mutations may complicate noninvasive methods for colon evaluation. More frequent colonoscopy should be considered for patients with a heavy polyp burden.