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Updated: Jan 31, 2026

Primary Culture of Rat Adrenocortical Cells and Assays of Steroidogenic Functions
Published on: March 12, 2019
Case Report of an Adrenocortical Carcinoma Associated With Germline CHEK2 Mutation
Changqing Xie1, Sally Tanakchi2, Margarita Raygada3
1Medical Oncology Service, Center for Cancer Research, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland.
Abstract:
Adrenocortical carcinoma (ACC) is an aggressive form of cancer that originates in the cortex of the adrenal gland; the incidence of ACC is 1.5 to 2 cases per million people per year. ACCs are rare and mostly sporadic. A small proportion of ACC cases are associated with hereditary cancer syndromes. Here, we present a case of ACC with a pathogenic heterozygous germline deletion in CHEK2 (c.1100delC). This is, to our knowledge, the first report of a patient with ACC associated with a CHEK2 germline deletion.
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