Expression and amplification of the N-myc gene in primary retinoblastoma

WH Lee, AL Murphree, WF Benedict - Nature, 1984 - nature.com
WH Lee, AL Murphree, WF Benedict
Nature, 1984nature.com
Retinoblastoma, the most common intraocular tumour of childhood, probably arises from
embryonal cells and occurs in hereditary and non-hereditary forms1. Recent evidence
suggests that this retinoblastoma (Rb) susceptibility gene located at chromosome 13q14 is
actually recessive2–4. Knudson has proposed that the tumour is caused by two mutational
events5. This idea was extended by Comings6, who suggested that dominantly inherited
tumours may resuit from loss or inactivation of both alleles of regulatory or suppressor genes …
Abstract
Retinoblastoma, the most common intraocular tumour of childhood, probably arises from embryonal cells and occurs in hereditary and non-hereditary forms1. Recent evidence suggests that this retinoblastoma (Rb) susceptibility gene located at chromosome 13q14 is actually recessive2–4. Knudson has proposed that the tumour is caused by two mutational events5. This idea was extended by Comings6, who suggested that dominantly inherited tumours may resuit from loss or inactivation of both alleles of regulatory or suppressor genes that, when active, prevent the expression of a structural transforming gene(s) (possibly an oncogene) normally active only during embryogenesis. Despite circumstantial evidence3,4,7,8for this hypothesis, no activated oncogene9–14 has been identified. We now report that (1) the N-myc gene is amplified 10–200-fold in two primary retinoblastomas and a retinoblastoma cell line Y79 and (2) expression of N-myc gene is highly elevated in most of the retinoblastomas examined. This finding suggests that N-myc gene may have a primary role in the turaorigenesis of retinoblastoma.
nature.com