Sandbox:patho2
Pathogenesis
- Neuroblastoma arises from neural crest cells, which are normally involved in the development of the sympathetic nervous system and adrenal glands.
- Neuroblastoma is frequently observed along the sympathetic nervous system structures. Specific sites may include:
- Adrenal glands (35% of the cases)
- Retroperitoneal organs (30% of the cases):
- Organ of Zuckerkandl
- Coeliac axis
- Paravertebral sympathetic chain
- Posterior mediastinum (20% of the cases)
- Nerve tissues in the neck (1-5% of the cases)
- Nerve tissues in the pelvis (2-3% of the cases)
- Neuroblastoma cells can secrete catecholamines such as:
- Vanillylmandelic acid (VMA)
- Homovanillic acid (HVA)
- Neuroblastoma may demonstrate spontaneous regression from an undifferentiated state to a completely benign cellular state.
Genetics
- Development of neuroblasotma is the result of multiple genetic mutations.
- The vast majority of neuroblastoma cases are sporadic.
- 1-2% of neuroblastoma cases may demonstrate a familial predilection.
- Genes involved in the pathogenesis of neuroblastoma include:
- ALK gene on chromosome 2
- PHOX2A gene on chromosome 11
- KIF1B gene on chromosome 1
- LMO1 gene on chromosome 11
- NBPF10 gene chromosome 1
- MYCN oncogene amplification is a common finding among neuroblastoma patients.
Associated Conditions
- Neuroblastoma is associated with a number of syndromes that include:
- Neurofibromatosis type 1 syndrome (von Recklinghausen disease)
- Beckwith-Wiedemann syndrome
- DiGeorge syndrome
- Hirschsprung disease