Neuroblastoma with DNA amplification and rearrangement in the N-myc gene region.
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.
Hiyama
E
E
Department of General Medicine, Hiroshima University School of Medicine, Japan.
Hiyama
K
K
Yokoyama
T
T
D000310:Adrenal Gland Neoplasms / Q000235:genetics* / Q000473:pathology; D000595:Amino Acid Sequence; D015139:Blotting, Southern; D005260:Female; D005784:Gene Amplification; D015321:Gene Rearrangement / Q000235:genetics*; D016259:Genes, myc / Q000235:genetics*; D006801:Humans; D007223:Infant; D008113:Liver Neoplasms / Q000473:pathology / Q000556:secondary; D008207:Lymphatic Metastasis; D008969:Molecular Sequence Data; D009447:Neuroblastoma / Q000235:genetics* / Q000473:pathology / Q000556:secondary; D015183:Restriction Mapping