- 期刊
- OpenAccess
Multiple Endocrine Neoplasia Type 1 Syndrome with Adrenocortical Carcinoma - A Case Report and Literature Review
摘要
Background. Multiple endocrine neoplasia type 1 (MEN1) syndrome is an uncommon autosomal dominant disorder comprised of pituitary tumors, parathyroid tumors, and entero-pancreatic endocrine tumor. The estimated average prevalence of adrenal involvement is 20%, most of which are nonfunctional adrenocortical adenomas. Adrenocortical carcinoma occurred in only about 2~6% of all MEN1. Methods. We reported the biochemical findings, imaging studies and mutation analysis in a case of MEN1 syndrome and adrenocortical carcinoma. Results. A 49-year-old woman was presented to our hospital with initial presentations of bone pain, hypercalcemia and incidental androgen-secreting adrenocortical carcinoma. We analyzed MEN1 gene in this patient and found a one-base-pair deletion (c.292delC) in exon 2 of the MEN1 gene. Postoperative bone scan demonstrated enhancement over thoracic spine and right femur. Conclusion. The association between exon 2 mutation of the MEN1 gene and the development of adrenal carcinomas in patients with MEN1 syndrome warrants further investigation.