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Multiple endocrine neoplasia type 2: A review by Jes Sloth Mathiesen; Grigoris Effraimidis; Maria Rossing; Åse Krogh Rasmussen; Lise Hoejberg; Lars Bastholt; Christian Godballe; Peter Oturai; Ulla Feldt-Rasmussen is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Multiple endocrine neoplasia type 2: A review about?

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. Germline RET variants causing MEN 2 result in gain-of-function; since the discovery of the genetic variants a thorough search for genotype-phenotype associations began in order to understand the high variability both between families and within family members. These studies have successfully led to improved risk classification of prognosis in relation to the genotype, thus improving the management of the patients by thorough genetic counseling. The present review summarizes the recent developments in the knowledge of these hereditary syndromes as well

Who reads Multiple endocrine neoplasia type 2: A review?

Author

Jes Sloth Mathiesen; Grigoris Effraimidis; Maria Rossing; Åse Krogh Rasmussen; Lise Hoejberg; Lars Bastholt; Christian Godballe; Peter Oturai; Ulla Feldt-Rasmussen

Publisher

Elsevier BV

Published

2022

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)