MYCN
MIM.164840 2p24.1
Pathology
1. The proto-oncogene MYCN (MYC family of transcription factors) is amplified in a number of tumors including neuroblastoma, rhabdomyosarcoma, retinoblastoma and small cell lung carcinoma.
Amplification of MYCN is usually observed as double minute chromosomes (dmin) in direct tumor cytogenetic preparations while established cell lines with amplification often exhibit homogeneously staining regions (hsr).
MYCN gene amplification in
- MYCN-amplified neuroblastomas (MYCN-amplified neuroblastic tumors)
- rhabdomyosarcomas
- medulloblastoma (18286303)
Presence of dmin in tumors does indicate the possibility of some excision of sequences from the chromosomes, preferably the resident MYCN region i.e. 2p24.
2. Heterozygous mutations in the gene MYCN in Feingold syndrome (15821734)
- MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome (15821734)
- All mutations are predicted to disrupt both the full-length protein and a new shortened MYCN isoform
- Feingold syndrome is characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, syndactyly and cardiac defect.
See also
See also
MYCs proteins
References
Surace C, Pedeutour F, Trombetta D, Burel-Vandenbos F, Rocchi M, Storlazzi CT. Episomal amplification of MYCN in a case of medulloblastoma. Virchows Arch. 2008 Feb 20; PMID: 18286303
van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet. 2005 May;37(5):465-7. PMID: 15821734