Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene

World J Surg Oncol. 2011 Jan 25:9:6. doi: 10.1186/1477-7819-9-6.

Abstract

The incidence of adrenal involvement in MEN1 syndrome has been reported between 9 and 45%, while the incidence of adrenocortical carcinoma (ACC) in MEN1 patients has been reported between 2.6 and 6%. In the literature data only unilateral development of ACCs in MEN1 patients has been reported. We report a 31 years-old female MEN1-patient, in whom hyperplasia of the parathyroid glands, prolactinoma, non functioning pancreatic endocrine carcinoma and functioning bilateral adrenal carcinomas were diagnosed. Interestingly, a not previously described in the literature data, novel germline mutation (p.E45V) in exon 2 of MEN1 gene, was detected. The association of exon 2 mutation of the MEN1 gene with bilateral adrenal carcinomas in MEN1 syndrome, should be further investigated.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Cortex Neoplasms / genetics*
  • Adrenal Cortex Neoplasms / pathology
  • Adrenocortical Carcinoma / genetics*
  • Adrenocortical Carcinoma / pathology
  • Adult
  • Exons / genetics
  • Female
  • Germ-Line Mutation / genetics*
  • Humans
  • Multiple Endocrine Neoplasia Type 1 / genetics*
  • Multiple Endocrine Neoplasia Type 1 / pathology
  • Multiple Endocrine Neoplasia Type 1 / surgery
  • Prognosis
  • Proto-Oncogene Proteins / genetics*

Substances

  • MEN1 protein, human
  • Proto-Oncogene Proteins