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Case Report of an Adrenocortical Carcinoma Associated With Germline CHEK2 Mutation

Year: 2018

Type: article

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.

Source: Journal of the Endocrine Society

DOI: 10.1210/js.2018-00343

Authors: Changqing Xie, Sally Tanakchi, Margarita Raygada, Jeremy L Davis, Jaydira Del Rivero

Institutions: National Institutes of Health, National Cancer Institute, Center for Cancer Research, National Institutes of Health Clinical Center

Language: English

Topic: Adrenal and Paraganglionic Tumors

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,255