title: Overexpression of the retinoblastoma gene in a familial adrenocortical carcinoma.
abstract: Tumors derived from a Li-Fraumeni syndrome cancer-susceptible family were examined for expression of the retinoblastoma susceptibility gene (RB). Whereas RB expression was normal in a primary breast carcinoma and its metastases from one member of this family, overexpression of RB was found in an adrenocortical carcinoma from another family member. This was in contrast to normal RB expression in normal tissue of this patient, the adrenocortical adenocarcinoma cell line SW-13, and the fibroblast cell line MRC-5, and low level RB expression in normal adrenal tissue. The overexpression in the adrenocortical carcinoma resulted in increased synthesis of the RB-encoded protein and did not appear to be associated with RB amplification or rearrangement. This result is novel as it is usually the loss of expression or production of an altered RB transcript exhibiting deletions that is associated with carcinogenesis. In light of the recent discovery of p53 point mutations in the affected Li-Fraumeni syndrome family members tested, RB overexpression may constitute a secondary event in Li-Fraumeni syndrome tumorigenesis.
authors.affiliation: Leukemia Research and Viral Pathology Unit, Children's Hospital, Camperdown, Sydney, Australia.
authors.forename: S
authors.initials: S
authors.lastname: Warneford
authors.forename: M
authors.initials: M
authors.lastname: Townsend
authors.forename: P B
authors.initials: PB
authors.lastname: Rowe
authors.forename: L
authors.initials: L
authors.lastname: Dalla-Pozza
authors.forename: G
authors.initials: G
authors.lastname: Symonds
mesh_terms: D000306:Adrenal Cortex Neoplasms / Q000235:genetics* / Q000473:pathology; D000328:Adult; D001859:Bone Neoplasms / Q000556:secondary; D001943:Breast Neoplasms / Q000473:pathology; D002277:Carcinoma / Q000235:genetics* / Q000473:pathology; D002460:Cell Line; D002675:Child, Preschool; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012175:Retinoblastoma / Q000235:genetics*; D014407:Tumor Cells, Cultured