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...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2020-09-01
|
| Series: | Frontiers in Endocrinology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/article/10.3389/fendo.2020.543246/full |
| _version_ | 1818554512913203200 |
|---|---|
| author | Shu-Yuan Li Yi-Qiang Ding You-Liang Si Mu-Jin Ye Chen-Ming Xu Xiao-Ping Qi |
| author_facet | Shu-Yuan Li Yi-Qiang Ding You-Liang Si Mu-Jin Ye Chen-Ming Xu Xiao-Ping Qi |
| author_sort | Shu-Yuan Li |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-12T09:40:39Z |
| format | Article |
| id | doaj.art-a3e79fd77df943ee90cc9fb5343d0f80 |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-12-12T09:40:39Z |
| publishDate | 2020-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj.art-a3e79fd77df943ee90cc9fb5343d0f802022-12-22T00:28:35ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922020-09-011110.3389/fendo.2020.5432465432465P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision MedicineShu-Yuan Li0Yi-Qiang Ding1You-Liang Si2Mu-Jin Ye3Chen-Ming Xu4Xiao-Ping Qi5International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Oncologic and Urologic Surgery, The 903rd PLA Hospital, Wenzhou Medical University, Hangzhou, ChinaDepartment of Oncologic and Urologic Surgery, The 903rd PLA Hospital, Wenzhou Medical University, Hangzhou, ChinaInternational Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaInternational Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Oncologic and Urologic Surgery, The 903rd PLA Hospital, Wenzhou Medical University, Hangzhou, ChinaMultiple 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.https://www.frontiersin.org/article/10.3389/fendo.2020.543246/full5P strategiesmultiple endocrine neoplasia type 2medullary thyroid carcinomapheochromocytomaRET proto-oncogeneprecision medicine |
| spellingShingle | Shu-Yuan Li Yi-Qiang Ding You-Liang Si Mu-Jin Ye Chen-Ming Xu Xiao-Ping Qi 5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine Frontiers in Endocrinology 5P strategies multiple endocrine neoplasia type 2 medullary thyroid carcinoma pheochromocytoma RET proto-oncogene 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 | 5P strategies multiple endocrine neoplasia type 2 medullary thyroid carcinoma pheochromocytoma RET proto-oncogene precision medicine |
| url | https://www.frontiersin.org/article/10.3389/fendo.2020.543246/full |
| work_keys_str_mv | AT shuyuanli 5pstrategiesformanagementofmultipleendocrineneoplasiatype2aparadigmofprecisionmedicine AT yiqiangding 5pstrategiesformanagementofmultipleendocrineneoplasiatype2aparadigmofprecisionmedicine AT youliangsi 5pstrategiesformanagementofmultipleendocrineneoplasiatype2aparadigmofprecisionmedicine AT mujinye 5pstrategiesformanagementofmultipleendocrineneoplasiatype2aparadigmofprecisionmedicine AT chenmingxu 5pstrategiesformanagementofmultipleendocrineneoplasiatype2aparadigmofprecisionmedicine AT xiaopingqi 5pstrategiesformanagementofmultipleendocrineneoplasiatype2aparadigmofprecisionmedicine |