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Patient Story

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A 3-year-old girl presents to the emergency department with decreased appetite, fatigue, and irritability for 1 month. She has periorbital ecchymoses (raccoon eyes) without a history of trauma (Figure 212-1). A CT scan is ordered to look for a neuroblastoma. The CT scan of her orbit shows bony erosions and periosteal reaction of her orbits. An MRI scan of her abdomen reveals a primary adrenal tumor. A biopsy is performed of the adrenal tumor confirming the diagnosis of neuroblastoma. She responds well to several courses of chemotherapy.

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FIGURE 212-1

Neuroblastoma presenting with periorbital ecchymoses (raccoon eyes) in a 3-year-old girl. In this case, the eye tumor is metastatic disease from a primary neuroblastoma of the adrenal gland. (Used with permission from Cleveland Clinic Children’s Hospital Photo Files.)

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Introduction

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Neuroblastoma is a malignant embryonal childhood tumor of the sympathetic nervous system derived from primordial neural crest cells.

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Epidemiology

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  • Neuroblastoma is the most common malignant extracranial solid tumor of childhood and accounts for 8 to 10 percent of childhood cancers in children under 15 year of age.1

  • There are between 600 to 650 cases each year in the US.

  • Occurs in approximately 14/100,000 live births.

  • Occurs in approximately 0.8 to 1/100,000 children under age 15 per year.

  • It is the most common cancer of infancy (<12 months; 58/1,000,000 infants per year).

  • Median age at diagnosis is 17 to 22 months. Ninety percent of cases are diagnosed by 5 years of age. It is rare after the age of 10 years.1

  • Accounts for approximately 15 percent of all pediatric cancer fatalities.

  • More common in Caucasians.

  • Occurs slightly more frequently in boys that girls (1.2:1).2

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Etiology and Pathophysiology

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  • Neuroblastic tumors arise from the primitive sympathetic ganglion cells and include neuroblastomas, ganglioneuroblastomas, and gangliomas. They may arise anywhere along the sympathetic ganglia and in the adrenal medulla. The etiology of neuroblastoma in most cases remains unknown, but certain recurrent molecular abnormalities have been found including amplification of the oncogene MYCN in approximately 20 percent of tumors, deletion of 1p36 and 11q, and in patients under 18 months of age.3

  • Familial neuroblastoma accounts for 1 to 2 percent of all cases and demonstrates an autosomal dominant pattern of inheritance with incomplete penetrance. It is associated with an earlier presentation, and bilateral adrenal or multifocal disease. It has been linked to mutations in the Phox2B and ALK genes.4

  • Mutations in Phox2B mutations are also associated with Haddad’s syndrome, a rare congenital neurocristopathy that includes Hirschsprung disease, congenital central hypoventilation, and sympathetic ganglia tumors.

  • Neuroblastoma may be detected in utero on prenatal ultrasound and often regresses or differentiates without intervention.

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Risk factors

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  • Epidemiologic studies have failed to show identifiable environmental etiologic risk ...

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