Table 1.

Genetic predisposition syndromes associated with adrenocortical carcinoma

Syndrome	Mutated gene	Prevalence in ACC patients	Associated tumors and phenotype
Li-Fraumeni syndrome, Li-Fraumeni-like syndrome, and heritable TP53-related cancer. Founder TP53 haplotype	TP53 TP53 p.R337H	~50% in children ~5% in adults ~90% in children in Southern Brazil	Early breast cancer, sarcoma, brain cancer, leukemia, choroid plexus carcinoma, lung cancer Choroid plexus carcinoma (children) Early breast cancer, sarcoma, lung cancer, stomach cancer (adults)
Lynch syndrome	MSH2, MSH6, MLH1, PMS2	~4% in adults	Colorectal cancer, endometrial cancer, ovarian cancer, pancreatic cancer, prostate cancer, urethral cancer, sebaceous gland cancer
Multiple endocrine neoplasia type 1	MEN1	~1% in adults	Pituitary tumors, parathyroid adenomas, gastrointestinal and pancreatic neuroendocrine tumors, collagenoma, angiofibroma, benign adrenocortical tumors
Beckwith-Wiedemann syndrome	IGF2, CDKN1C, H19, dysregulation ofchromosome11p15	Rare	Wilms’ tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma, macroglossia, omphalocele, adrenocortical cytomegaly
Familial adenomatous polyposis	APC	Rare	Colorectal cancer and polyps, duodenal cancer and adenomas, thyroid cancer, osteoma, epidermoid cysts, adrenocortical adenomas