Neuroblastoma with DNA amplification and rearrangement in the N-myc gene region

Cancer Res. 1991 Apr 1;51(7):1946-51.


We detected a rearrangement in the N-myc gene region in a neuroblastoma from a 9-month-old girl. In this case, the N-myc gene was amplified 50-fold in the primary tumor, the lymph node metastasis, and the hepatic metastasis. The rearrangement was detected only in the primary tumor and the lymph node metastasis, whereas N-myc RNA and protein expression were detected only in the primary tumor and the hepatic metastasis. Both the rearranged N-myc gene and the normal N-myc gene were amplified 25-fold, and the rearrangement occurred 723 nucleotides downstream from the 3' end of exon 3. The cell line (NH-6) derived from the primary tumor showed N-myc gene amplification without this rearrangement. These results suggest the following: (a) the primary tumor had a least two clones; (b) the rearrangement interrupted N-myc gene expression; and (c) oncogenesis preceded N-myc gene amplification.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenal Gland Neoplasms / genetics*
  • Adrenal Gland Neoplasms / pathology
  • Amino Acid Sequence
  • Blotting, Southern
  • Female
  • Gene Amplification*
  • Gene Rearrangement / genetics*
  • Genes, myc / genetics*
  • Humans
  • Infant
  • Liver Neoplasms / pathology
  • Liver Neoplasms / secondary
  • Lymphatic Metastasis
  • Molecular Sequence Data
  • Neuroblastoma / genetics*
  • Neuroblastoma / pathology
  • Neuroblastoma / secondary
  • Restriction Mapping