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Multiple endocrine neoplasia type 2: A reveiw

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@article{bf5951e0f21343d68f688a062b0e3ed7,
title = "Multiple endocrine neoplasia type 2: A reveiw",
abstract = "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 as the impact on clinical management, including genetic counseling, of both individual patients and families. It furthermore points to future directions of research for better clarification of timing of treatments of the various manifestations of the syndromes in order to improve survival and morbidity in these patients.",
keywords = "Genotype-phenotype, Medullary thyroid carcinoma, MEN 2, Prognosis, Prophylactic thyroidectomy, Risk stratification",
author = "Mathiesen, {Jes Sloth} and Grigoris Effraimidis and Maria Rossing and Rasmussen, {{\AA}se Krogh} and Lise Hoejberg and Lars Bastholt and Christian Godballe and Peter Oturai and Ulla Feldt-Rasmussen",
note = "Copyright {\textcopyright} 2021 Elsevier Ltd. All rights reserved.",
year = "2021",
month = apr,
day = "1",
doi = "10.1016/j.semcancer.2021.03.035",
language = "English",
journal = "Seminars in Cancer Biology",
issn = "1044-579X",
publisher = "Academic Press, Incorporated",

}

RIS

TY - JOUR

T1 - Multiple endocrine neoplasia type 2

T2 - A reveiw

AU - Mathiesen, Jes Sloth

AU - Effraimidis, Grigoris

AU - Rossing, Maria

AU - Rasmussen, Åse Krogh

AU - Hoejberg, Lise

AU - Bastholt, Lars

AU - Godballe, Christian

AU - Oturai, Peter

AU - Feldt-Rasmussen, Ulla

N1 - Copyright © 2021 Elsevier Ltd. All rights reserved.

PY - 2021/4/1

Y1 - 2021/4/1

N2 - 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 as the impact on clinical management, including genetic counseling, of both individual patients and families. It furthermore points to future directions of research for better clarification of timing of treatments of the various manifestations of the syndromes in order to improve survival and morbidity in these patients.

AB - 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 as the impact on clinical management, including genetic counseling, of both individual patients and families. It furthermore points to future directions of research for better clarification of timing of treatments of the various manifestations of the syndromes in order to improve survival and morbidity in these patients.

KW - Genotype-phenotype

KW - Medullary thyroid carcinoma

KW - MEN 2

KW - Prognosis

KW - Prophylactic thyroidectomy

KW - Risk stratification

UR - http://www.scopus.com/inward/record.url?scp=85104076840&partnerID=8YFLogxK

U2 - 10.1016/j.semcancer.2021.03.035

DO - 10.1016/j.semcancer.2021.03.035

M3 - Review

C2 - 33812987

JO - Seminars in Cancer Biology

JF - Seminars in Cancer Biology

SN - 1044-579X

ER -

ID: 66210118