PMID- 1751410 OWN - NLM STAT- MEDLINE DCOM- 19920127 LR - 20061115 IS - 1044-9523 (Print) IS - 1044-9523 (Linking) VI - 2 IP - 9 DP - 1991 Sep TI - Overexpression of the retinoblastoma gene in a familial adrenocortical carcinoma. PG - 439-45 AB - 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. FAU - Warneford, S AU - Warneford S AD - Leukemia Research and Viral Pathology Unit, Children's Hospital, Camperdown, Sydney, Australia. FAU - Townsend, M AU - Townsend M FAU - Rowe, P B AU - Rowe PB FAU - Dalla-Pozza, L AU - Dalla-Pozza L FAU - Symonds, G AU - Symonds G LA - eng PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Cell Growth Differ JT - Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research JID - 9100024 SB - IM GS - RB MH - Adrenal Cortex Neoplasms/*genetics/pathology MH - Adult MH - Bone Neoplasms/secondary MH - Breast Neoplasms/pathology MH - Carcinoma/*genetics/pathology MH - Cell Line MH - Child, Preschool MH - Female MH - Gene Expression Regulation, Neoplastic MH - Humans MH - Li-Fraumeni Syndrome/*genetics MH - Male MH - Pedigree MH - Retinoblastoma/*genetics MH - Tumor Cells, Cultured EDAT- 1991/09/01 00:00 MHDA- 1991/09/01 00:01 CRDT- 1991/09/01 00:00 PHST- 1991/09/01 00:00 [pubmed] PHST- 1991/09/01 00:01 [medline] PHST- 1991/09/01 00:00 [entrez] PST - ppublish SO - Cell Growth Differ. 1991 Sep;2(9):439-45.