Mutations of CDKN2 have been found recently in melanoma and many other
tumor types. Neuroblastoma shares with melanoma a neuroectodermal ori
gin and a high incidence of deletions of the short arm of chromosome 1
. Therefore, we analyzed 18 primary neuroblastomas and 9 tumor-derived
cell lines for mutations in CDKN2. We used PCR-single-strand conforma
tion polymorphism to examine exons 1 and 2 of the CDKN2 gene for mutat
ions, but none were detected. Furthermore, no homozygous deletions wer
e detected and there was no loss of heterozygosity at the closely link
ed IFNA locus. We conclude that disruption of the CDKN2 gene is not re
quired for malignant transformation of human neuroblastomas.