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5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine

Multiple endocrine neoplasia type 2 (MEN2) is a neuroendocrine cancer syndrome characterized by medullary thyroid carcinoma, in combination or not with pheochromocytoma, hyperparathyroidism, and extra-endocrine features. MEN2 syndrome includes two clinically distinct forms subtyped as MEN2A and MEN2...

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Autores principales: Li, Shu-Yuan, Ding, Yi-Qiang, Si, You-Liang, Ye, Mu-Jin, Xu, Chen-Ming, Qi, Xiao-Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7531599/
https://www.ncbi.nlm.nih.gov/pubmed/33071967
http://dx.doi.org/10.3389/fendo.2020.543246
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author Li, Shu-Yuan
Ding, Yi-Qiang
Si, You-Liang
Ye, Mu-Jin
Xu, Chen-Ming
Qi, Xiao-Ping
author_facet Li, Shu-Yuan
Ding, Yi-Qiang
Si, You-Liang
Ye, Mu-Jin
Xu, Chen-Ming
Qi, Xiao-Ping
author_sort Li, Shu-Yuan
collection PubMed
description Multiple endocrine neoplasia type 2 (MEN2) is a neuroendocrine cancer syndrome characterized by medullary thyroid carcinoma, in combination or not with pheochromocytoma, hyperparathyroidism, and extra-endocrine features. MEN2 syndrome includes two clinically distinct forms subtyped as MEN2A and MEN2B. Nearly all MEN2 cases are caused by germline mutations of the RET proto-oncogene. In this review, we propose “5P” strategies for management of MEN2: prevention, prediction, personalization, psychological support, and participation, which could effectively improve clinical outcomes of patients. Based on RET mutations, MEN2 could be prevented through prenatal diagnosis or preimplantation genetic testing. Identification of pathogenic mutations in RET can enable early diagnosis of MEN2. Combining RET mutation testing with measurement of serum calcitonin, plasma or urinary metanephrine/normetanephrine, and serum parathyroid hormone levels could allow risk stratification and accurately prediction of MEN2 progression, thus facilitating implementation of personalized precision treatments to increase disease-free survival and overall survival. Furthermore, increased awareness of MEN2 is needed, which requires participation of physicians, patients, family members, and related organizations. Psychological support is also important for patients with MEN2 to promote comprehensive management of MEN2 symptoms. The “5P” strategies for management of MEN2 represent a typical clinical example of precision medicine. These strategies could effectively improve the health of MEN2 patient, and avoid adverse outcomes, including death and major morbidity, from MEN2.
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spelling pubmed-75315992020-10-17 5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine Li, Shu-Yuan Ding, Yi-Qiang Si, You-Liang Ye, Mu-Jin Xu, Chen-Ming Qi, Xiao-Ping Front Endocrinol (Lausanne) Endocrinology Multiple endocrine neoplasia type 2 (MEN2) is a neuroendocrine cancer syndrome characterized by medullary thyroid carcinoma, in combination or not with pheochromocytoma, hyperparathyroidism, and extra-endocrine features. MEN2 syndrome includes two clinically distinct forms subtyped as MEN2A and MEN2B. Nearly all MEN2 cases are caused by germline mutations of the RET proto-oncogene. In this review, we propose “5P” strategies for management of MEN2: prevention, prediction, personalization, psychological support, and participation, which could effectively improve clinical outcomes of patients. Based on RET mutations, MEN2 could be prevented through prenatal diagnosis or preimplantation genetic testing. Identification of pathogenic mutations in RET can enable early diagnosis of MEN2. Combining RET mutation testing with measurement of serum calcitonin, plasma or urinary metanephrine/normetanephrine, and serum parathyroid hormone levels could allow risk stratification and accurately prediction of MEN2 progression, thus facilitating implementation of personalized precision treatments to increase disease-free survival and overall survival. Furthermore, increased awareness of MEN2 is needed, which requires participation of physicians, patients, family members, and related organizations. Psychological support is also important for patients with MEN2 to promote comprehensive management of MEN2 symptoms. The “5P” strategies for management of MEN2 represent a typical clinical example of precision medicine. These strategies could effectively improve the health of MEN2 patient, and avoid adverse outcomes, including death and major morbidity, from MEN2. Frontiers Media S.A. 2020-09-18 /pmc/articles/PMC7531599/ /pubmed/33071967 http://dx.doi.org/10.3389/fendo.2020.543246 Text en Copyright © 2020 Li, Ding, Si, Ye, Xu and Qi. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Endocrinology
Li, Shu-Yuan
Ding, Yi-Qiang
Si, You-Liang
Ye, Mu-Jin
Xu, Chen-Ming
Qi, Xiao-Ping
5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine
title 5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine
title_full 5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine
title_fullStr 5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine
title_full_unstemmed 5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine
title_short 5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine
title_sort 5p strategies for management of multiple endocrine neoplasia type 2: a paradigm of precision medicine
topic Endocrinology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7531599/
https://www.ncbi.nlm.nih.gov/pubmed/33071967
http://dx.doi.org/10.3389/fendo.2020.543246
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