Table 2.

Genetic differential diagnosis for adrenocortical neoplasias.

Location	Heritable tumor syndrome and phenotype	Gene
Adrenocortical neoplasia	∘Multiple endocrine neoplasia type 1 (MEN 1)Adrenocortical adenoma, HPT, pituitary and neuroendocrine tumors∘Beckwith–Wiedemann syndrome (BWS)ACC, Wilms' tumor, hepatoblastoma, rhabdomyosarcoma∘McCune–Albright syndromeCushing syndrome, pituitary tumors, polyostotic fibrous dysplasia, patchy skin pigmentation, thyrotoxicosis, gigantism∘Li–Fraumeni Syndrome (LFS)ACC, breast cancer, sarcomas, leukemia,∘Adrenocortical hyperplasiaNodular hyperplasia∘Gardner syndromeACC, polyps of the colon, osteomas, fibromas, thyroid cancer	MEN1CDKN1C (KIP2)GNAS1TP53CYP21APC
Adrenal medulla/Pheochromozytoma	∘Multiple endocrine neoplasia type 2 (MEN 2)∘Von Hippel–Lindau disease (VHL)∘Neurofibromatosis type 1 (NF1)∘Pheochromocytoma–paraganglioma syndrome (PC-PGL syndrome)	RETVHLNF1SDHB, SDHC, SDHD

ACC: adrenocortical carcinoma. HPT: hyperparathyroidism.