Jes Sloth Mathiesen, Grigoris Effraimidis, Maria Rossing, Åse Krogh Rasmussen, Lise Hoejberg, Lars Bastholt, Christian Godballe, Peter Oturai, Ulla Feldt-Rasmussen
Multiple endocrine neoplasias are rare hereditary syndromes some of them with malignant potential. Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant hereditary cancer syndrome due to germline variants in the REarranged during Transfection (RET) proto-oncogene. There are two distinct clinical entities: MEN 2A and MEN 2B. MEN 2A is associated with medullary thyroid carcinoma (MTC), phaeochromocytoma, primary hyperparathyroidism, cutaneous lichen amyloidosis and Hirschprung's disease and MEN 2B with MTC, phaeochromocytoma, ganglioneuromatosis of the aerodigestive tract, musculoskeletal and ophthalmologic abnormalities...
February 2022: Seminars in Cancer Biology