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Published on: September 15, 2017
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Adrenocortical carcinoma (ACC): When and why should we consider germline testing?
Elisabeth Joye Petr1, Tobias Else1
1University of Michigan, Michigan Medicine, Department of Internal Medicine, Metabolism, Endocrinology and Diabetes, 500 S State St, Ann Arbor, 48109, MI, USA.
Presse Medicale (Paris, France : 1983)
|August 15, 2018
Summary
Adrenocortical carcinoma (ACC) risk is elevated in Li-Fraumeni and other hereditary cancer syndromes. Genetic testing in ACC patients can identify families needing surveillance for multiple cancers.
Area of Science:
- Oncology
- Genetics
- Endocrinology
Background:
- Adrenocortical carcinoma (ACC) is a known component of Li-Fraumeni syndrome.
- Recent studies link ACC to increased risk in Lynch syndrome and multiple endocrine neoplasia.
Purpose of the Study:
- To review the association between hereditary cancer syndromes and ACC risk.
- To propose a genetic evaluation strategy for ACC patients.
Main Methods:
- Literature review of hereditary cancer syndromes and ACC.
- Analysis of genetic testing implications for patients and families.
Main Results:
- Hereditary syndromes significantly increase ACC risk, though absolute risk for ACC screening is often low.
- Genetic testing can identify carriers for tailored surveillance, particularly for associated cancers like colon cancer in Lynch syndrome.
Conclusions:
- ACC patients can be key for diagnosing hereditary syndromes in families.
- Genetic evaluation and cascade testing improve care and surveillance for hereditary cancer syndrome carriers.
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