Molecular Profiling of Neuroblastoma

Neuroblastoma is a cancer of peripheral nerve tissue, and it is most often diagnosed in infants and young children; neuroblastomas make up about 7.8% of all pediatric cancers (SEER 1999). Neuroblastoma is diagnosed in about 650 patients age 0–19 each year (SEER 1999). Survival rates depend upon age at diagnosis—younger patients (<18 months) have a better prognosis—histology, stage, MYCN status, and DNA ploidy, among other factors (Cohn et al. 2009). Five-year survival rates are 83% for infants (up to 1 year), 55% for children 1–4 years, and 40% for children 5 years and over (SEER 1999).

Neuroblastoma can occur in several places in the body; most commonly, neuroblastoma begins in nerve tissue in adrenal glands near the kidneys (NCI 2012). Neuroblastoma also occurs in nerve tissue in the spinal cord, neck, abdomen, or chest (NCI 2012). Traditionally, treatment of neuroblastoma includes surgical resection of the tumor in conjunction with chemotherapy or radiation therapy, if needed. Based upon the stage, age of patient and biologic features of the tumor, patients are grouped into low, intermediate, and high risk categories. Stage is determined by tumor location, resectability, and spread of the cancer. These categories are used to determine treatment course. Patients with higher risk disease are less likely to be cured by the treatment they receive.

The genetic basis for neuroblastoma is not yet well understood. However, the association of MYCN status and outcome is well established. In addition, ploidy, 11q, 1p, and 17q gain chromosomal statuses are important in assigning risk. Most recently, ALK mutations in neuroblastoma have been identified (Carpenter and Mosse 2012; Chen et al. 2008; George et al. 2008; Janoueix-Lerosey et al. 2008). ALK mutations have been detected in 6–9% of tumor samples (Chen et al. 2008; George et al. 2008; Janoueix-Lerosey et al. 2008). There has also been some work published on the roles of ATRX mutations (Cheung et al. 2012). ATRX mutations are associated with patient age: younger patients’ tumors are less likely to harbor ATRX mutations (Cheung et al. 2012). ATRX mutations and MYCN amplification are mutually exclusive (Cheung et al. 2012). Development of targeted therapeutics has focused on ALK.


Contributors: Scott C. Borinstein, M.D., Ph.D., Valerie Brown, M.D., Ph.D.

Suggested Citation: Borinstein, S., V. Brown. 2014. Molecular Profiling of Neuroblastoma. My Cancer Genome (Updated September 16).

Last Updated: September 16, 2014

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