Novel germ line mutation p53-P177R in adult adrenocortical carcinoma producing neuron-specific enolase as a possible marker.
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.
Ide
Hisamitsu
H
Department of Urology, Teikyo University School of Medicine, Kaga 2-11-1, Itabashi, Tokyo, Japan.
Terado
Yuichi
Y
Tokiwa
Shino
S
Nishio
Kojiro
K
Saito
Keisuke
K
Isotani
Shuji
S
Kamiyama
Yutaka
Y
Muto
Satoru
S
Imamura
Tetsuo
T
Horie
Shigeo
S
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
D014408:Biomarkers, Tumor; D010751:Phosphopyruvate Hydratase