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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Mini Review MYCN (myc myelocytomatosis viral related oncogene, neuroblastoma derived) Jean-Loup Huret Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France Published in Atlas Database: March 1998 Online updated version: http://AtlasGeneticsOncology.org/Genes/NMYC112.html DOI: 10.4267/2042/37407 This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence. © 1998 Atlas of Genetics and Cytogenetics in Oncology and Haematology Identity MYCN (2p24) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome: contact [email protected]. Location: 2p24.1 C-term; forms heterodimers with MAX and recognize the core concensus sequence CACCTG. Local order: centromeric to DDX1 DNA/RNA Expression Description Localisation 3 exons. Nuclear. Protein Function Description Probable transcription factor; possible role during tissue differentiation. 464 amino acids; contains a phosphorylation site, an acidic domain, an HLH motif, and a leucine zipper in Homology Atlas Genet Cytogenet Oncol Haematol. 1998;2(2) During fetal development. With members of the myc family of helix-loop-helix transcription factors. 41 MYCN (myc myelocytomatosis viral related oncogene, neuroblastoma derived) Huret JL high lactate dehydrogenase, ferritin, and neuronspecific enolase serum levels). Mutations Somatic References Amplification, either in extrachromosomal double minutes or in homogeneously staining regions within chromosomes (there is amplification when, for exemple, 10 to 1000 copies of a gene are present in a cell); found amplified in a variety of human tumours, in particular in and also in retinoblastoma, small cell lung carcinoma, astrocytoma; level of amplification related to the tumour progression; transgenic mice that overexpress MYCN in neuroectodermal cells develop neuroblastoma. Kohl NE, Kanda N, Schreck RR, Bruns G, Latt SA, Gilbert F, Alt FW. Transposition and amplification of oncogene-related sequences in human neuroblastomas. Cell 1983 Dec;35(2 Pt 1):359-67. Tonini GP, Boni L, Pession A, Rogers D, Iolascon A, Basso G, Cordero di Montezemolo L, Casale F, Pession A, Perri P, Mazzocco K, Scaruffi P, Lo Cunsolo C, Marchese N, Milanaccio C, Conte M, Bruzzi P, De Bernardi B. MYCN oncogene amplification in neuroblastoma is associated with worse prognosis, except in stage 4s: the Italian experience with 295 children. J Clin Oncol 1997 Jan;15(1):85-93. Weiss WA, Aldape K, Mohapatra G, Feuerstein BG, Bishop JM. Targeted expression of MYCN causes neuroblastoma in transgenic mice. EMBO J 1997 Jun 2;16(11):2985-95. Implicated in Neuroblastoma This article should be referenced as such: Oncogenesis MYCN amplification is found in 15% of neuroblastoma, is an adverse prognostic feature per se, and is often associated with other adverse features (older age, abdominal tumour, advanced disease, and Atlas Genet Cytogenet Oncol Haematol. 1998;2(2) Huret JL. MYCN (myc myelocytomatosis viral related oncogene, neuroblastoma derived). Atlas Genet Cytogenet Oncol Haematol.1998;2(2):41-42. 42