Table 1.

Recommendations for pediatric solid tumors (diagnosed <18 years of age) warranting referral for genetic evaluation regardless of family historya

Central and peripheral nervous system tumorsNon-CNS solid tumorsRenal and genitourinary tumors (non-rhabdoid)
Acoustic/vestibular schwannomaAdrenocortical carcinomaBotryoid-type embryonal rhabdomyosarcoma
Atypical teratoid/rhabdoid tumorAnaplastic rhabdomyosarcomaCystic nephroma
Choroid plexus carcinomaBasal cell carcinomaGonadoblastoma
CNS hemangioblastomaCarcinoid tumorGynandroblastoma
Malignant nerve sheath tumorsCardiac rhabdomyomaJuvenile granulosa cell tumor
Medulloblastoma (sonic hedgehog, desmoplastic, nodular)Ciliary body medulloepitheliomaLarge cell calcifying Sertoli-Leydig cell tumor (testicular)
Neurofibroma (two or more or one plexiform neurofibroma)Gastrointestinal cancerOvarian Sertoli-Leydig cell tumor
Optic pathway gliomaCribriform-morular variant of papillary thyroid cancerRenal angiomyolipoma
PineoblastomaDesmoid tumorRenal cell carcinoma
Pituitary blastomaEndolymphatic sac tumors (ELST)Renal sarcoma
Subependymal giant cell astrocytomaGastrointestinal stromal tumor (GIST)Urothelial cell carcinoma
HepatoblastomaWilms tumor (bilateral/multifocal)
Malignant rhabdoid tumor
Medullary thyroid cancer
Melanoma
Multinodular goiter
Myxoma
Nasal chondromesenchymal hamartoma
Osteosarcoma (dx <10 y)
Parathyroid carcinoma
Pheochromocytoma/paraganglioma
Pleuropulmonary blastoma
Retinal hemangioblastoma
Retinoblastoma
  • Abbreviations: CNS, central nervous system; dx, diagnosis; y, years.

  • aOf note, these lists are not comprehensive of indications that may warrant automatic consideration for referrals. Referral practices may vary, and indications may change with time