Table 3.

Summary of cancer predisposition syndromes and recommended surveillance in childhood

Cancer predisposition syndrome (inheritance)	Genes involved	CNS tumor risk/spectrum	Other neoplasia risk and features	AACR Childhood Cancer Predisposition Workshop: Surveillance Guidelines (for those without active disease)
Neurofibromatosis type 1 (AD)	NF1	Optic pathway gliomas, Gliomas (low and high grade)	Malignant peripheral nerve sheath tumor Leukemia Lymphoma Embryonal rhabdomyosarcoma Breast cancer Pheochromocytoma Gastrointestinal stromal tumor	Annual neurologic exam and physical exam Ophthalmic assessments from birth to 8 years, every 6 months to 12 months MRI surveillance is not currently recommended unless symptomatic or with an already diagnosed tumor Annual Screening for Breast cancer and Hypertension after the age of 30 years
Neurofibromatosis type 2 (AD)	NF2	Schwannoma, meningioma, ependymoma		Annual history and physical exam (including audiology with measurement of pure−tone thresholds and Word Recognition Scores) Annual (consider twice yearly in first year since diagnosis or signs of rapid growth) brain MRI starting at 10 years of age. If baseline imaging shows no characteristic sites of involvement, reduce frequency of screening to every 2 years Surveillance spinal MRI is recommended at 24− to 36−month intervals beginning at 10 years of age
Li Fraumeni Syndrome (AD)	TP53	High-grade glioma, anaplastic astrocytoma, choroid plexus carcinoma medulloblastoma	Sarcomas Breast Cancer Adrenocortical Carcinoma Leukemia and Lymphoma	Complete physical examination and neurologic exam every 3–4 months US of abdomen and pelvis every 3–4 months Annual brain MRI beginning at diagnosis Annual Whole-Body MRI beginning at diagnosis
Von Hippel Lindau Syndrome (AD)	VHL	CNS Hemangioblastoma	Pheochromocytomas, retinal hemangioblastomas, ELST	Biennial brain and spine MRI beginning at age 8 Annual ophthalmologic examination beginning at birth Annual physical exam Annual plasma free metanephrines beginning at age 2 Biennial audiogram beginning at age 5 Annual abdominal MRI beginning at age 10
Constitutional Mismatch Repair Deficiency ( CMMRD) (AR)	MLH1, MSH2, MSH6 PMS2 EPCAM	High-grade glioma Medulloblastoma	Hematological malignancies Gastrointestinal malignancies	Brain MRI at diagnosis and once every 6 months Whole-body MRI annually beginning at age 6 Abdominal ultrasound q6 months beginning at age 1 CBC q 6 months beginning at age 1 Upper gastrointestinal endoscopy; VCE, ileocolonoscopy annually beginning at age 4–6
Gorlin Syndrome / Nevoid Basal Cell Carcinoma Syndrome ( AD)	PTCH1 SUFU	Medulloblastoma, especially desmoplastic and SHH-type	Basal cell carcinoma, cardiac and ovarian fibromas keratocystic odontogenic tumors	Brain MRI can be considered in those with a SUFU variant every 4 months until age 3 and then every 6 months until age 5 Basic echocardiogram in infancy Dental exams with jaw X-ray every 12 to 18 months beginning at age 8 for PTCH1 mutation carriers Ovarian ultrasound by age 18 Basal cell carcinoma screening annually to begin by age 10
Rhabdoid Tumor Predisposition Syndrome (AD)	SMARCB1 SMARCA4	Atypical teratoid rhabdoid tumors Schwannomatosis Meningioma	Rhabdoid tumors Non-small cell carcinoma of the ovary hypercalcemic type	Brain MRI every 3 months till age 5 Consider whole-body MRI annually till age 5 Abdominal ultrasound every 3 months to age 5 (Recommendations are only made for SMARCB1 loss of function mutations)

AD autosomal dominant, AR autosomal recessive, ELST endolymphatic sac tumor