2 型多发性内分泌肿瘤 (MEN 2) 是一种罕见的遗传性内分泌肿瘤综合征，由转染期间重排 (RET) 基因突变引起。 MEN 2 分为两个主要实体：MEN 2A 和 MEN2B，这两种疾病在约 100% 的病例中表现为甲状腺髓样癌 (MTC)，在 50% 的病例中表现为嗜铬细胞瘤。特定的 RET 突变与从 1 岁（最高风险）到 5 岁（高风险）早期发生 MTC 的风险相关。这种风险决定了甲状腺切除术的最佳时机，最好是在疾病尚未扩散的年龄。这是在 MEN 2 中观察到的最重要的基因型-表型相关性。特定的 RET 突变也定义了嗜铬细胞瘤的外显率。然而，尽管存在这些最高/高风险变异，一些患者意外地出现非侵袭性 MTC 或从未出现嗜铬细胞瘤，这表明主要 RET 变异以外的因素可能会改变自然史和基因型-表型相关性。提高我们对基因型-表型相关性的理解将有助于对 MEN 2 患者进行个体化管理和随访。这篇简短综述的目的是讨论 MEN 2 的主要基因型-表型相关性以及可能影响这些相关性的潜在因素。相关性。

Multiple endocrine neoplasia type 2 (MEN 2) is a rare hereditary endocrine tumour syndrome caused by mutations in the rearranged during transfection (RET) gene. MEN 2 is divided into two main entities, MEN 2A and MEN2B, both of which present with medullary thyroid cancer (MTC) in approximately 100% of cases and pheochromocytoma in 50% of cases. Specific RET mutations are associated with a risk of early onset of MTC, from 1 year of age (highest risk) to 5 years of age (high risk). This risk defines the optimal timing for thyroidectomy, ideally at an age when the disease has not spread. This is the most important genotype-phenotype correlation observed in MEN 2. Specific RET mutations also define the penetrance of pheochromocytoma. However, despite the presence of these highest/high risk variants, some patients unexpectedly present with non-aggressive MTC or never present with pheochromocytoma, suggesting that factors other than the major RET variant may modify the natural history and genotype-phenotype correlations. Improving our understanding of the genotype-phenotype correlations would allow individualizing the management and follow-up of patients with MEN 2. The aim of this brief review is to discuss the main genotype-phenotype correlations in MEN 2 and the potential factors that might influence these correlations.