Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET

Am J Med Genet A. 2021 Apr;185(4):1282-1287. doi: 10.1002/ajmg.a.62099. Epub 2021 Feb 21.

Abstract

Adrenocortical carcinoma (ACC) is a rare aggressive malignancy that originates in the outer layer of the adrenal gland. Most ACCs are sporadic, but a small percentage of cases are due to hereditary cancer syndromes such as Li-Fraumeni syndrome (LFS), Lynch syndrome (LS), and familial adenomatous polyposis (FAP). Multiple endocrine neoplasia type 2A (MEN2A) is an inherited disorder that predisposes to medullary thyroid cancer, pheochromocytoma, and parathyroid hyperplasia. We present here a case of ACC with both LS and MEN2A; the family and medical history were consistent with Lynch. This is, to our knowledge, the first report of a patient with ACC associated with germline mutations in RET and MSH2, and no phenotypical characteristics of MEN2A.

Keywords: Lynch syndrome; adrenocortical cancer; multiple endocrine neoplasia type 2A.

Publication types

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

MeSH terms

  • Adrenocortical Carcinoma / complications
  • Adrenocortical Carcinoma / genetics*
  • Adrenocortical Carcinoma / pathology
  • Colorectal Neoplasms, Hereditary Nonpolyposis / complications
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / pathology
  • Female
  • Genetic Predisposition to Disease
  • Germ-Line Mutation / genetics
  • Humans
  • Male
  • Middle Aged
  • Multiple Endocrine Neoplasia Type 2a / complications
  • Multiple Endocrine Neoplasia Type 2a / genetics*
  • Multiple Endocrine Neoplasia Type 2a / pathology
  • MutS Homolog 2 Protein / genetics*
  • Pedigree
  • Proto-Oncogene Proteins c-ret / genetics*

Substances

  • Proto-Oncogene Proteins c-ret
  • RET protein, human
  • MSH2 protein, human
  • MutS Homolog 2 Protein