Familial Cushing syndrome due to thymic carcinoids in a multiple endocrine neoplasia type 1 kindred

Endocrine. 2014 Sep;47(1):183-90. doi: 10.1007/s12020-013-0141-6. Epub 2014 Jan 23.

Abstract

The objective of this study is to present a familial Cushing syndrome (CS) caused by multiple endocrine neoplasia type 1 (MEN-1)-associated thymic carcinoid. Immunohistochemistry, gene sequencing, loss of heterozygosity analysis, and Western blot were used to determine the expression of ACTH in MEN-1-related thymic tumors, MEN1 gene mutation, the pattern and extent of allelic deletion, and the expression of Menin in MEN-1-associated tumors, respectively. Tumor cells from thymus ectopic-secreted ACTH. A deletion involving the MEN1 gene locus was confirmed. The expression of Menin in MEN-1-associated tumors declined. To conclude, we presented an unusual kindred of MEN-1, which pointed out the significance of making screening of MEN-1 for both male and female patients with CS and thymic carcinoid.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ACTH Syndrome, Ectopic / complications
  • Adult
  • Carcinoid Tumor / complications*
  • Carcinoid Tumor / diagnosis
  • Carcinoid Tumor / metabolism
  • Cushing Syndrome / diagnosis
  • Cushing Syndrome / etiology*
  • Family
  • Female
  • Humans
  • Male
  • Middle Aged
  • Multiple Endocrine Neoplasia Type 1 / complications*
  • Multiple Endocrine Neoplasia Type 1 / diagnosis
  • Pedigree
  • Thymus Neoplasms / complications*
  • Thymus Neoplasms / diagnosis
  • Thymus Neoplasms / metabolism