The trends in early precision diagnosis and treatment strategies of multiple endocrine neoplasia type 2.
10.3760/cma.j.cn112139-20220714-00312
- Author:
Xiao Ping QI
1
;
Baiye JIN
2
Author Information
1. Department of Oncologic and Urologic Surgery, the 903rd Hospital of People's Liberation Army, Hangzhou Medical College, Hangzhou 310004, China.
2. Department of Urology, the First Affiliated Hospital, School of Medicine, Zhejiang University School of Medicine, Hangzhou 311200, China.
- Publication Type:Journal Article
- MeSH:
Humans;
Multiple Endocrine Neoplasia Type 2a/therapy*;
Quality of Life;
Proto-Oncogene Proteins c-ret/genetics*;
Early Detection of Cancer;
Thyroid Neoplasms/genetics*;
Adrenal Gland Neoplasms/therapy*
- From:
Chinese Journal of Surgery
2022;60(11):973-980
- CountryChina
- Language:Chinese
-
Abstract:
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant hereditary neuroendocrine cancer syndrome characterized by medullary thyroid carcinoma, in combination or not with pheochromocytoma, hyperparathyroidism and extra-endocrine features, and two forms subtyped as MEN2A and MEN2B. Based on the correlation between RET proto-oncogene mutation and MEN2 phenotype, MEN2 could be prevented through prenatal diagnosis and preimplantation genetic testing. Integrating the detection of RET mutation with measurement of serum calcitonin, plasma or urinary metanephrine/normetanephrine, and serum parathyroid hormone levels could accurately predict the progression of MEN2, and then facilitating implementation of personalized precision treatment. In addition, increased awareness of MEN2 is needed, which requires participation of physicians, patients/family members, and relevant organizations, supplemented by psychological support, which could promote the comprehensive management of MEN2. The "5P" strategies for MEN2 represents a paradigm of precision medicine, which could effectively avoid or reduce the clinical adverse outcomes, improve the prognosis and quality of life of MEN2 patients.
