Case report of an adrenocortical carcinoma associated with germline CHEK2 mutation

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.