A comprehensive review on MEN2B

Frederic Castinetti, Jeffrey Moley, Lois Mulligan, Steven G. Waguespack

Research output: Contribution to journalReview article

  • 6 Citations

Abstract

MEN2B is a very rare autosomal dominant hereditary tumor syndrome associated with medullary thyroid carcinoma (MTC) in 100% cases, pheochromocytoma in 50% cases and multiple extra-endocrine features, many of which can be quite disabling. Only few data are available in the literature. The aim of this review is to try to give further insights into the natural history of the disease and to point out the missing evidence that would help clinicians optimize the management of such patients. MEN2B is mainly characterized by the early occurrence of MTC, which led the American Thyroid Association to recommend preventive thyroidectomy before the age of 1 year. However, as the majority of mutations are de novo, improved knowledge of the nonendocrine signs would help to lower the age of diagnosis and improve long-term outcomes. Future large-scale studies will be aimed at characterizing more in detail the main characteristics and outcomes of MEN2B.

LanguageEnglish
PagesT29-T39
JournalEndocrine-Related Cancer
Volume25
Issue number2
DOIs
StatePublished - Feb 1 2018
Externally publishedYes

Fingerprint

Thyroidectomy
Pheochromocytoma
Mutation
Neoplasms
Medullary Thyroid cancer

Keywords

  • Ganglioneuromas
  • Marfanoid
  • Medullary thyroid cancer
  • Pheochromocytoma
  • RET

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Oncology
  • Endocrinology
  • Cancer Research

Cite this

Castinetti, F., Moley, J., Mulligan, L., & Waguespack, S. G. (2018). A comprehensive review on MEN2B. Endocrine-Related Cancer, 25(2), T29-T39. https://doi.org/10.1530/ERC-17-0209

A comprehensive review on MEN2B. / Castinetti, Frederic; Moley, Jeffrey; Mulligan, Lois; Waguespack, Steven G.

In: Endocrine-Related Cancer, Vol. 25, No. 2, 01.02.2018, p. T29-T39.

Research output: Contribution to journalReview article

Castinetti, F, Moley, J, Mulligan, L & Waguespack, SG 2018, 'A comprehensive review on MEN2B' Endocrine-Related Cancer, vol. 25, no. 2, pp. T29-T39. https://doi.org/10.1530/ERC-17-0209
Castinetti F, Moley J, Mulligan L, Waguespack SG. A comprehensive review on MEN2B. Endocrine-Related Cancer. 2018 Feb 1;25(2):T29-T39. https://doi.org/10.1530/ERC-17-0209
Castinetti, Frederic ; Moley, Jeffrey ; Mulligan, Lois ; Waguespack, Steven G. / A comprehensive review on MEN2B. In: Endocrine-Related Cancer. 2018 ; Vol. 25, No. 2. pp. T29-T39.
@article{8269d0f3cd3c45f5840e9ee1aac21b0d,
title = "A comprehensive review on MEN2B",
abstract = "MEN2B is a very rare autosomal dominant hereditary tumor syndrome associated with medullary thyroid carcinoma (MTC) in 100{\%} cases, pheochromocytoma in 50{\%} cases and multiple extra-endocrine features, many of which can be quite disabling. Only few data are available in the literature. The aim of this review is to try to give further insights into the natural history of the disease and to point out the missing evidence that would help clinicians optimize the management of such patients. MEN2B is mainly characterized by the early occurrence of MTC, which led the American Thyroid Association to recommend preventive thyroidectomy before the age of 1 year. However, as the majority of mutations are de novo, improved knowledge of the nonendocrine signs would help to lower the age of diagnosis and improve long-term outcomes. Future large-scale studies will be aimed at characterizing more in detail the main characteristics and outcomes of MEN2B.",
keywords = "Ganglioneuromas, Marfanoid, Medullary thyroid cancer, Pheochromocytoma, RET",
author = "Frederic Castinetti and Jeffrey Moley and Lois Mulligan and Waguespack, {Steven G.}",
year = "2018",
month = "2",
day = "1",
doi = "10.1530/ERC-17-0209",
language = "English",
volume = "25",
pages = "T29--T39",
journal = "Endocrine-Related Cancer",
issn = "1351-0088",
publisher = "Society for Endocrinology",
number = "2",

}

TY - JOUR

T1 - A comprehensive review on MEN2B

AU - Castinetti, Frederic

AU - Moley, Jeffrey

AU - Mulligan, Lois

AU - Waguespack, Steven G.

PY - 2018/2/1

Y1 - 2018/2/1

N2 - MEN2B is a very rare autosomal dominant hereditary tumor syndrome associated with medullary thyroid carcinoma (MTC) in 100% cases, pheochromocytoma in 50% cases and multiple extra-endocrine features, many of which can be quite disabling. Only few data are available in the literature. The aim of this review is to try to give further insights into the natural history of the disease and to point out the missing evidence that would help clinicians optimize the management of such patients. MEN2B is mainly characterized by the early occurrence of MTC, which led the American Thyroid Association to recommend preventive thyroidectomy before the age of 1 year. However, as the majority of mutations are de novo, improved knowledge of the nonendocrine signs would help to lower the age of diagnosis and improve long-term outcomes. Future large-scale studies will be aimed at characterizing more in detail the main characteristics and outcomes of MEN2B.

AB - MEN2B is a very rare autosomal dominant hereditary tumor syndrome associated with medullary thyroid carcinoma (MTC) in 100% cases, pheochromocytoma in 50% cases and multiple extra-endocrine features, many of which can be quite disabling. Only few data are available in the literature. The aim of this review is to try to give further insights into the natural history of the disease and to point out the missing evidence that would help clinicians optimize the management of such patients. MEN2B is mainly characterized by the early occurrence of MTC, which led the American Thyroid Association to recommend preventive thyroidectomy before the age of 1 year. However, as the majority of mutations are de novo, improved knowledge of the nonendocrine signs would help to lower the age of diagnosis and improve long-term outcomes. Future large-scale studies will be aimed at characterizing more in detail the main characteristics and outcomes of MEN2B.

KW - Ganglioneuromas

KW - Marfanoid

KW - Medullary thyroid cancer

KW - Pheochromocytoma

KW - RET

UR - http://www.scopus.com/inward/record.url?scp=85042586439&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85042586439&partnerID=8YFLogxK

U2 - 10.1530/ERC-17-0209

DO - 10.1530/ERC-17-0209

M3 - Review article

VL - 25

SP - T29-T39

JO - Endocrine-Related Cancer

T2 - Endocrine-Related Cancer

JF - Endocrine-Related Cancer

SN - 1351-0088

IS - 2

ER -