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

Margarita Raygada1, Mark Raffeld2, Andrew Bernstein3

  • 1Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland, DC, USA.

American Journal of Medical Genetics. Part A
|February 22, 2021
PubMed

Insights

This study reports the first case of Adrenocortical Carcinoma (ACC) in a patient with both Lynch syndrome (LS) and Multiple Endocrine Neoplasia type 2A (MEN2A). The patient had germline mutations in RET and MSH2, without typical MEN2A features.

Area of Science:

  • Endocrinology
  • Oncology
  • Genetics

Background:

  • Adrenocortical carcinoma (ACC) is a rare, aggressive adrenal gland cancer.
  • While often sporadic, ACC can be linked to hereditary syndromes like Li-Fraumeni syndrome (LFS), Lynch syndrome (LS), and familial adenomatous polyposis (FAP).
  • Multiple Endocrine Neoplasia type 2A (MEN2A) is an inherited condition associated with specific cancers and endocrine tumors.

Observation:

  • A patient presented with Adrenocortical Carcinoma (ACC).
  • The patient's family and medical history indicated Lynch syndrome (LS).
  • The patient also carried genetic predispositions typically associated with MEN2A.

Findings:

  • This case represents the first documented instance of ACC co-occurring with both Lynch syndrome (LS) and Multiple Endocrine Neoplasia type 2A (MEN2A).
  • The patient exhibited germline mutations in both the RET and MSH2 genes.
  • Notably, the patient did not display the characteristic phenotypic features of MEN2A.

Implications:

  • This case expands the understanding of genetic predispositions to Adrenocortical Carcinoma (ACC).
  • It highlights the potential for complex genetic interactions in rare cancers.
  • Further research is warranted to explore the clinical significance of combined RET and MSH2 mutations in ACC development.
Keywords:
Lynch syndromeadrenocortical cancermultiple endocrine neoplasia type 2A

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