TABLE 1.

Common pediatric polyposis syndromes and malignancy risk^*

Syndrome	Gene (s)	Cancer risk	Screening	Onset	Interval	Other
Familial adenomatous polyposis	APC	Colon	Colonoscopy	10 years	1 year	Colectomy recommended by 20 to 25 years
		Gastric	Endoscopy	18 to 20 years	1 to 4 years
		Thyroid	Examination or ultrasound	18 years	1 year
		Brain (medulloblastoma)	Neurologic examination	Infancy	1 year
		Liver (hepatoblastoma)	Alpha-fetoprotein, abdominal ultrasound	Infancy	3 to 6 months	Until ages 5 years
		Desmoid tumor	Abdominal examination, Abdomen/pelvis MRI	Postcolectomy	1 to 3 years	Can lengthen to 5 to 10 years if first interval normal
Juvenile polyposis syndrome	SMAD4 and BMPR1A	Gastric	Endoscopy	15 years	1 to 3 years	Evaluate for HHT with SMAD4 mutation
		Colon	Colonoscopy	15 years	1 to 3 years
Peutz-Jeghers syndrome	STK11	Gastric	Endoscopy	8 to 10 years	2 to 3 years	Defer second study to 18 years ofage if no polyps
		Colon	Colonoscopy	8 to 10 years	2 to 3 years	Defer second study to 18 years of age if no polyps
		Small intestine	MRE or video capsule study	8 to 10 years	2 to 3 years	Defer second study to 18 years of age if no polyps
		Reproductive—F (ovarian/cerv/uterine)	Pap smear, pelvic examination	18 years	1 year
		Reproductive—M (testes)	Testicular examination	10 years	1 year
		Pancreas	MRCP or endoscopic US	30 to 35 years	1 to 2 years
		Breast	Mammogram/breast MRI Breast self-examination	25 years	1 year 6 months
PTEN hamartoma tumor syndrome	PTEN	Colon	Colonoscopy	35 years	1 to 5 years	Earlier if symptomatic
		Thyroid	Examination and ultrasound	18 years	1 year

^*Modified from Achatz et al, Clinical Cancer Research, 2016. F = female; M = male; MRI = magnetic resonance imaging; MRE = magnetic resonance enterography; MRCP = magnetic resonance cholangiopancreatography; US = ultrasound.