The MYCN gene is a member of the MYC transcription factor family consisting of c-MYC, MYCN and MYCL. It is crucial for embryonic development, especially in the nervous system. The expression is tightly regulated in a spatial and timely manner and high levels are found in the developing brain, retina, neuroepithelial cells, lung and kidney. MYCN expression is associated with the maintenance of self-renewal capacity and the pluripotent status of stem cells. Dysregulation of MYCN contributes to the development of different kinds of childhood tumors including neuroblastoma, medulloblastoma, rhabdomyosarcoma and Wilms tumor. MYCN is also involved in the development of some adulthood neoplasms such as prostate and lung cancer.
Neuroblastoma is the most common extracranial solid tumor in infants. About 6% of all cancers in children are caused by neuroblastomas and 20-25% of neuroblastoma patients are showing an amplification of the MYCN gene. MYCN amplification is an important prognostic marker for risk stratification in neuroblastoma. Generally, patients with MYCN amplification have a poor prognosis. FISH is a valuable tool for the analysis of the MYCN amplification status. It detects MYCN amplification on single-cell level and allows the correlation with morphological cell features.
Clinical Applications
- Solid Tumors (Solid Tumors)