From Epigenetics to Genetics in Neuroblastoma

Neuroblastomas (NBLs) are embryonic tumors that arise from sympathetic nerve cell precursors in the developing neural crest. It is one of the most common malignancies in the first years of life and is diagnosed in 1/100000 children under the age of 15 every year. In the Netherlands, approximately 25-30 new patients are diagnosed with NBL disease each year. NBL is a heterogeneous disease as demonstrated by its diversity in clinical behavior, genetics and prognosis. Most tumors develop in the adrenal medulla (60%) and paraspinal ganglia of the sympathetic chain (30%). Clinical diversity is apparent at diagnosis by a range of presentations.First, NBL can present as asymptomatic masses, incidentally discovered or presented as an abdominal or thoracic lump. Second, NBL cells may invade the spinal cord, with neurological signs of cord compression as presenting symptom. Third, patients may present with metastatic disease to the bone and bone-marrow, inducing pain and depression of blood cell lineages with subsequent fatigue and hemorrhagic tendency. Fourth, patients with primary tumors in the neck or upper chest may present with a classical combination of symptoms called Horner’s syndrome, characterized by ptosis (drooping eyelid), myosis (constriction of the pupil), and anhydrosis (decreased sweating of the face). Fifth, a special and rather favorable form of NBL, stage 4S NBL, is observed in infants with metastasis limited to liver and skin with low grade invasion of the bone-marrow and absence of cortical bone involvement.

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