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The etiology is unknown.

The following factors have been implicated but not proven to cause neuroblastoma:

    • Paternal exposure to electromagnetic fields
    • Prenatal exposure to alcohol, pesticides, phenobarbital


Genetic Predisposition

A subset of patients exhibit a predisposition to develop neuroblastoma:

    • Familial NBL in about 1 - 2% of all cases:
      • A subgroup of cases display autosomal dominant inheritance.
      • Germline deletion at the 1p36 or 11q14-23 locus is associated with neuroblastoma.
      • Mossé et al showed that activating germline mutatios in the ALK gene (the tyrosine kinase domain of the anaplastic lymphoma kinase (ALK) oncogene) account for most cases of hereditary neuroblastoma.
      • These germline mutations encode for single-base substitutions in key regions of the kinase domain and result in constitutive activation of the kinase and a pre-malignant state. Mutations resulting in oncogene activation are also somatically acquired in 5 to 15% of neuroblastomas.
      • Median age of diagnosis for familial neuroblastoma is 9 months (younger than median).


Associated Conditions

  • Children with either sporadic or familial neuroblastoma in conjunction with congenital central hypoventilation syndrome, Hirschsprung’s disease or both usually have loss of function mutations in the homeobox gene PHOX2B.
  • Genetic testing for mutations in ALK and PHOX2B should be considered if there is a family history of neuroblastoma or other clinical conditions suggestive of a penetrant transmissible mutation (e.g. bilateral primary tumors of the adrenal glands).
  • Testing is currently available to practitioners: (
  • Other conditions associated with neuroblastoma are:




References and Resources:

Genetics Home Reference (NIH)

Recent Advances in Neuroblastoma John M. Maris,





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