title: Novel germ line mutation p53-P177R in adult adrenocortical carcinoma producing neuron-specific enolase as a possible marker.
abstract: Adrenocortical cancer (ACC) is a rare and aggressive endocrine tumor. The patient presented with a large retroperitoneum tumor and lung metastases. Removal of the adrenocortical tumor with part of the transverse colon and tail of the pancreas, spleen and kidney was successfully performed following chemotherapy. Levels of serum neuron-specific enolase (NSE) were found to be markedly high before surgery and may be clinically useful markers for monitoring tumor status during management. Immunohistochemical studies showed that the cancer cells were positive for NSE and overexpression of p53. We identified a novel germ line variant of the 177 mutant (Pro to Arg; P177R) of p53 by genomic sequencing. The genetic and biochemical data presented in this case confirm the importance of screening for p53 status in ACC with inherited cancer syndrome.
authors.affiliation: Department of Urology, Teikyo University School of Medicine, Kaga 2-11-1, Itabashi, Tokyo, Japan.
authors.forename: Hisamitsu
authors.initials: H
authors.lastname: Ide
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Terado
authors.forename: Shino
authors.initials: S
authors.lastname: Tokiwa
authors.forename: Kojiro
authors.initials: K
authors.lastname: Nishio
authors.forename: Keisuke
authors.initials: K
authors.lastname: Saito
authors.forename: Shuji
authors.initials: S
authors.lastname: Isotani
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Kamiyama
authors.forename: Satoru
authors.initials: S
authors.lastname: Muto
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Imamura
authors.forename: Shigeo
authors.initials: S
authors.lastname: Horie
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D018268:Adrenocortical Carcinoma / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology / Q000556:secondary / Q000628:therapy; D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D014408:Biomarkers, Tumor / Q000097:blood*; D017024:Chemotherapy, Adjuvant; D003131:Combined Modality Therapy; D005260:Female; D016158:Genes, p53 / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D008175:Lung Neoplasms / Q000556:secondary; D009392:Nephrectomy; D010751:Phosphopyruvate Hydratase / Q000097:blood* / Q000378:metabolism; D012186:Retroperitoneal Neoplasms / Q000556:secondary
chemical_list: D014408:Biomarkers, Tumor; D010751:Phosphopyruvate Hydratase