[The trends in early precision diagnosis and treatment strategies of multiple endocrine neoplasia type 2].
Zhonghua Wai Ke Za Zhi
; 60(11): 973-980, 2022 Nov 01.
Article
in Zh
| MEDLINE
| ID: mdl-36323578
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Thyroid Neoplasms
/
Adrenal Gland Neoplasms
/
Multiple Endocrine Neoplasia Type 2a
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Aspects:
Patient_preference
Limits:
Humans
Language:
Zh
Journal:
Zhonghua Wai Ke Za Zhi
Year:
2022
Document type:
Article