AUTHOR=Li Shu-Yuan , Ding Yi-Qiang , Si You-Liang , Ye Mu-Jin , Xu Chen-Ming , Qi Xiao-Ping 

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

JOURNAL=Frontiers in Endocrinology

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2020.543246

DOI=10.3389/fendo.2020.543246

ISSN=1664-2392

ABSTRACT=<p>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 <italic>RET</italic> 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 <italic>RET</italic> mutations, MEN2 could be <italic>prevented</italic> through prenatal diagnosis or preimplantation genetic testing. Identification of pathogenic mutations in <italic>RET</italic> can enable early diagnosis of MEN2. Combining <italic>RET</italic> mutation testing with measurement of serum calcitonin, plasma or urinary metanephrine/normetanephrine, and serum parathyroid hormone levels could allow risk stratification and accurately <italic>prediction</italic> of MEN2 progression, thus facilitating implementation of <italic>personalized</italic> precision treatments to increase disease-free survival and overall survival. Furthermore, increased awareness of MEN2 is needed, which requires <italic>participation</italic> of physicians, patients, family members, and related organizations. <italic>Psychological</italic> 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.</p>