NMYC amplification, (2p24)
The proto-oncogene N-MYC (MYCN), located on the distal short arm of chromosome 2 (2p24), encodes the MYCN transcriptional regulator, expressed predominantly during the peripheral neural crest development, and has a role in cell growth control and proliferation. This gene is essential for stem cells proliferation, migration and homeostasis, and is expressed mainly in the development of the nervous system, playing a critical role during embryogenesis. N-MYC expression quickly attenuates when the tissue is differentiated and growth stops. Overexpression of NMYC appears to block cellular differentiation and increases cell proliferation. Interestingly, high-risk tumors without NMYC amplification often show increased expression of CMYC and / or activation of MYC signaling pathways.
N-MYC amplification is present in 25% of neuroblastoma cases and correlates with less favorable prognosis. Currently, the amplification of N-MYC remains the best genetic risk marker for neuroblastoma.
References
- Huang M et al. (2013) Cold Spring Harb Perspect Med. 1;3(10).
- Westemark UK et al. (2011) Semin Cancer Biol. 21(4):256-66.
- Stallings RL et al. (2004) Cytogenet Genome Res. 106(1):49-54
- Thomas WD et al. (2004) Int J of Bioch & Cell Biol. 36(5):771-5
