Is Neuroblastoma a Genetic Disorder?

Li Liu, MD
Last Modified: November 1, 2001

Dear OncoLink "Ask the Experts,"
Is neuroblastoma a genetic disorder?

Li Liu, MD, OncoLink Editorial Assistant, responds:

Dear K,
Thank you for your interest and question.

Neuroblastoma is the most common malignant intraabdominal tumor in children. It constitutes 7-10% of all cases of childhood cancer. While its etiology remains unknown, there may be genetic factors, which predispose to its development. Evidence for this comes from two fronts. First, neuroblastoma has been reported in the medical literature (Cancer 57:1887, 1986; European Journal of Pediatrics, 150:789, 1991). However, this is very rare. Second, chromosomal abnormalities have been reported as a possible predisposing factor to the development of neuroblastoma (Genes Chromosomes Cancers 2:252, 1990). Almost all neuroblastoma tumors demonstrate activation of the N-myc oncogene (inappropriate activation of oncogenes may cause cancer formation). However, how the N-myc oncogene becomes activated in the case of neuroblastoma is unclear.

Finally, the incidence of neuroblastoma appears to be higher in Caucasians than in blacks (Int J Cancer 1992 Oct 21; 52(4): 538-43), and this appears to be a worldwide phenomenon. The fact that it is a disease rarely seen in children born with Down Syndrome (Cancer Res 1998 Feb 1; 58(3): 448-52) and that Down Syndrome is rarely seen in neuroblastoma patients is further support for some genetic connection.

So while neuroblastoma is not considered a genetic disorder per se, there is evidence that some genetic factors are associated with the disease.


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