Monday 18 April 2005
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)
- MYCN-amplified rhabdomyosarcomas
- MYCN-amplified 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.
- 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.
MYCN promotes the expansion of Phox2B-positive neuronal progenitors to drive neuroblastoma development. (19608868)
Gain of MYCN region in a Wilms tumor-derived xenotransplanted cell line. Noguera R, Villamón E, Berbegall A, Machado I, Giner F, Tadeo I, Navarro S, Llombart-Bosch A. Diagn Mol Pathol. 2010 Mar;19(1):33-9. PMID: 20186010
MYCN promotes the expansion of Phox2B-positive neuronal progenitors to drive neuroblastoma development. Alam G, Cui H, Shi H, Yang L, Ding J, Mao L, Maltese WA, Ding HF. Am J Pathol. 2009 Aug;175(2):856-66. PMID: 19608868
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