Table 1.

Summary of cancer surveillance recommendations

SyndromeChildhood cancer riskSurveillance guidelines
I. Surveillance warranted
 Costello syndrome15% by 20 yrs: ERMS, NBL, bladder cancer0 to 8–10 yrs: physical exam and AP US ± CXR q 3–4 mths From 10 yrs: annual urinalysis
 NS—specific PTPN11 or KRAS mutationsHigh risk of myeloproliferative disorder/JMML0 to 5 yrs: physical exam (with assessment of spleen) and CBC with differential q 3–6 mths
 CBL syndromeHigh but not precisely defined JMML risk; more rarely other neoplasms0 to 5 yrs: Physical exam (with assessment of spleen) and CBC with differential q 3–6 mths
 SGS—mildUnknown but may approximate 10–15%: SC-GCT and PNET, HBLAttention for congenital tumors on baseline imaging for SGSConsider periodic AP US, AFP/βHCG
II. Baseline only
 SGS—severeUnknown but may approximate 10–15%: SC-GCT and PNET, HBLAttention for congenital tumors on baseline imaging for SGS Consider addition of AFP/βHCG to baseline bloodwork for SGS
III. No surveillance
For all of the following:<5% or unknown but low likelihoodNo routine surveillance Increased awareness and low threshold for investigating new potential tumor-related symptoms
 NS (non-high risk mutations)Dysembryoplastic neuroepithelial tumors, ALL, NBL, RMS, others
 NSLAHe.g., NBL, myelofibrosis
 NSMLe.g., acute leukemias
 CFCSe.g., ALL, NHL
 Legius syndromeFew cancers reported to date
 Sotos syndromee.g., NBL, ALL, AML, HBL, SCT, etc.
 Weaver syndromee.g., NBL, hematologic malignancies
 Rubinstein–Taybi syndromee.g., HBL, NBL, RMS, CNS tumors, carcinomas, etc.
 NKX2-1 syndromeNo evidence for cancer predisposition
  • Abbreviations: AFP, alpha-fetoprotein; ALL, acute lymphoblastic leukemia; AML, acute myelogenous leukemia; AP US, abdominopelvic ultrasound; βHCG, beta human chorionic gonadotrophin; CBC, complete blood count; CFCS, cardiofaciocutaneous syndrome; CNS, central nervous system; CXR, chest x-ray; ERMS, embryonal rhabdomyosarcoma; HBL, hepatoblastoma; JMML, juvenile myelomonocytic leukemia; mths, months; NBL, neuroblastoma; NHL, non-Hodgkin lymphoma; NS, Noonan syndrome; NSLAH, Noonan syndrome-like with loose anagen hair; NSML, Noonan syndrome with multiple lentigines; PNET, primitive neuroectodermal tumor; q, every; RMS; rhabdomyosarcoma; SC-GCT, sacrococcygeal germ cell tumor; SCT, sacrococcygeal teratoma; SGS, Schinzel–Giedion syndrome; yrs, years.