Adrenocortical carcinoma is a Lynch syndrome-associated cancer
Open accessAbstract
PURPOSE: Adrenocortical carcinoma (ACC) is an endocrine malignancy with a poor prognosis. The association of adult-onset ACC with inherited cancer predisposition syndromes is poorly understood. Our study sought to define the prevalence of Lynch syndrome (LS) among patients with ACC. PATIENTS AND METHODS: One hundred fourteen patients with ACC were evaluated in a specialized endocrine oncology clinic and were prospectively offered genetic counseling and clinical genetics risk assessment (group 1). In addition, families with known mismatch repair (MMR) gene mutations that were recorded in the University of Michigan Cancer Genetics Registry were retrospectively reviewed for the presence of ACC (group 2). ACC tumors from patients with LS were tested for microsatellite instability and immunohistochemistry (IHC) to evaluate for MMR deficiency. RESULTS: Ninety-four (82.5%) of 114 patients with ACC underwent genetic counseling (group 1). Three individuals (3.2%) had family histories suggestive of LS. All three families were found to have MMR gene mutations. Retrospective review of an additional 135 MMR gene-positive probands identified two with ACC (group 2). Four ACC tumors were available (group 1, 3; group 2, 1). All four tumors were microsatellite stable; three had IHC staining patterns consistent with germline mutation status. CONCLUSION: The prevalence of LS among patients with ACC is 3.2%, which is comparable to the prevalence of LS in colorectal and endometrial cancer. Patients with ACC and a personal or family history of LS tumors should be strongly considered for genetic risk assessment. IHC screening of all ACC tumors may be an effective strategy for identifying patients with LS.
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All tested ACCs were microsatellite stable at the usual microsatellite markers.
“Immunohistochenistry was informative in most cases; however, all tested ACCs were microsatellite stable at the usual microsatellite markers.”
From Adrenocortical carcinoma (2014) · cites this paper as [62]
The prevalence of Lynch syndrome in patients with ACC is ∼3%, comparable to the prevalence in colorectal and endometrial cancer (2% to 5%).
“Recently, a systematic analysis has defined the prevalence of Lynch syndrome in patients with ACC to be ∼3%, comparable to the prevalence in colorectal and endometrial cancer, estimated at 2% to 5% (62).”
From Adrenocortical carcinoma (2014) · cites this paper as [62]
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- Authors
- Raymond, V. M., Everett, J. N., Furtado, L. V., Gustafson, S. L., Jungbluth, C. R., Gruber, S. B., Hammer, G. D., Stoffel, E. M., Greenson, J. K., Giordano, T. J., & Else, T.
- Affiliations
- University of Michigan (US)
- ORCID
- Venue
- Journal of Clinical Oncology
- Published
- 2013-08-20
- Volume
- 31
- Issue
- 24
- Pages
- 3012-3018
- ISSN
- 0732-183X (ISSN-L)
- 1527-7755
- PMC
- PMC3739861
- OpenAlex
- W2100692201
- Cited by
- 208
- References
- 43
- Citations by year
- 2026: 13 · 2025: 15 · 2024: 13 · 2023: 10 · 2022: 19 · 2021: 27 · 2020: 18 · 2019: 15 · 2018: 21 · 2017: 16 · 2016: 16 · 2015: 12 · 2014: 7 · 2013: 5
- FWCI
- 9.81
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Clinical Oncology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (CA014089, CA046592)
- National Cancer Institute (CA 046592, K07CA120448, P30CA046592, P30CA014089)
- National Institute of Diabetes and Digestive and Kidney Diseases (T32DK007245, P30DK020572)
- Topics
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Keywords
- adrenocortical carcinoma, Lynch syndrome, mismatch repair deficiency, microsatellite instability, hereditary cancer predisposition, immunohistochemistry screening, genetic counseling, endocrine malignancy
- MeSH terms
- Adrenal Cortex Neoplasms, Adult, Colorectal Neoplasms, Hereditary Nonpolyposis, Female, Humans, Immunohistochemistry, Male, Middle Aged, Prospective Studies, Adrenocortical Carcinoma, Genetic Predisposition to Disease, Young Adult
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