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 c...

Full description

Saved in:
Bibliographic Details
Published in:Japanese journal of clinical oncology 2010-08, Vol.40 (8), p.815-818
Main Authors: Ide, Hisamitsu, Terado, Yuichi, Tokiwa, Shino, Nishio, Kojiro, Saito, Keisuke, Isotani, Shuji, Kamiyama, Yutaka, Muto, Satoru, Imamura, Tetsuo, Horie, Shigeo
Format: Article
Language:English
Subjects:
adernocortical carcinoma
Adrenal Gland Neoplasms - diagnosis
Adrenal Gland Neoplasms - enzymology
Adrenal Gland Neoplasms - genetics
Adrenal Gland Neoplasms - pathology
Adrenal Gland Neoplasms - therapy
Adrenocortical Carcinoma - diagnosis
Adrenocortical Carcinoma - enzymology
Adrenocortical Carcinoma - genetics
Adrenocortical Carcinoma - pathology
Adrenocortical Carcinoma - secondary
Adrenocortical Carcinoma - therapy
Adult
Antineoplastic Combined Chemotherapy Protocols - therapeutic use
Biomarkers, Tumor - blood
Chemotherapy, Adjuvant
Combined Modality Therapy
Female
Genes, p53 - genetics
Germ-Line Mutation
Humans
Lung Neoplasms - secondary
mutation
Nephrectomy
neuron-specific enolase
p53
Phosphopyruvate Hydratase - blood
Phosphopyruvate Hydratase - secretion
Retroperitoneal Neoplasms - secondary
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0368-2811
1465-3621
DOI:10.1093/jjco/hyq045