Table 3.

Summary of recommendations for childhood management

1. Genetic testingChildren considered at risk of NF1 especially with 6+ CAL macules or diagnosed with NIH criteria should ideally have genetic testing of the NF1 gene with an RNA-based approach and testing of SPRED1 if pigmentary features only
2. Genetic testingThose testing negative should be considered for a panel of genes including GNAS, MLH1, MSH2, MSH6, NF2, PMS2, PTPN11, SOS1, and SPRED1 (if not already tested)
3. GeneralAnnual history and physical exam (including skin and neurologic exam and also blood pressure, height, weight, and pubertal development)
Tumor surveillance
4. OPGChildren with NF1 should have 6–12 monthly ophthalmic assessments from birth to 8 years. One baseline assessment of color vision and visual fields should be undertaken when the child is developmentally able.
5. MPNSTAssess with history and clinical examination annually for typical signs of MPNST: any nondermal neurofibroma with rapid growth, loss of neurologic function, or increasing pain or change in consistency
6. JMMLAssess for risk of JMML in NF1 in children with juvenile xanthogranulomas
7. Internal burdenA baseline whole-body MRI should be considered between ages 16 and 20 years to assess internal tumor burden to determine adult follow-up regimen
8. Routine MRIMRI surveillance is not currently recommended unless symptomatic or with an already diagnosed tumor. Specific biochemical or imaging surveillance for tumors with absolute risks in childhood below 1% is not recommended such as for pheochromocytoma, neuroendocrine tumors, MPNST, or non-optic glioma.
  • Abbreviation: JMML, juvenile myelomonocytic leukemia.