多发性内分泌肿瘤2型早期精准诊治策略

The trends in early precision diagnosis and treatment strategies of multiple endocrine neoplasia type 2

多发性内分泌肿瘤2型(MEN2)是一种常染色体显性遗传的神经内分泌癌症综合征,临床特征性表现为甲状腺髓样癌,伴或不伴嗜铬细胞瘤、甲状旁腺功能亢进和内分泌腺外表型;有2种亚型MEN2A和MEN2B。基于RET突变与MEN2表型的相关性,通过产前诊断和植入前基因检测,可预防(preventive)MEN2发生;整合RET突变和血清降钙素等检测,可准确预测(predictive)MEN2进展,进而实施MEN2的个性化(personalized)精准治疗。此外,着力提高对MEN2的认识,需医务人员、患者和家属,以及相关组织机构的共同参与(participation),并辅以心理支持(psychological support),可促进MEN2的综合诊治水平的全面提高。MEN2的"5P诊治策略"是精确医学的范例代表,可有效避免或减少MEN2的临床危害,改善MEN2患者预后及其生活质量。

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.