The clinical manifestation of multiple endocrine neoplasia type 2 (MEN2) in terms of developing medullary thyroid cancer (MTC), pheochromocytoma (PCC), and/or primary hyperparathyroidism (PHPT) is related to the respective pathogenic variant of theRETproto-oncogene. The aim of this study is to retrospectively analyze the individual, genotype-dependent clinical manifestations of a large cohort of MEN2 patients. By comparing their clinical profile with currently existing evidence-based knowledge, an optimal therapy and prevention strategy in terms of prophylactic thyroidectomy and clinical follow-up could be ensured. This is a retrospective single-center study of 158 MEN2 patients who were diagnosed and/or surgically treated at a tertiary referral care center between 1990 and 2022. All participants were categorized according to their pathogenic variant of theRETproto-oncogene. Subsequently, the clinical manifestation of the disease and its time of occurrence was documented. Our analysis showed results in line with existing studies, except for a considerably lower-than-predicted occurrence of PCC in patients with V804M/L mutations. This study supports the current recommendation regarding the pathogenic variant-dependent management of this rare cancer-associated syndrome.
2型多发性内分泌腺瘤病（MEN2）在发生甲状腺髓样癌（MTC）、嗜铬细胞瘤（PCC）和/或原发性甲状旁腺功能亢进症（PHPT）方面的临床表现与RET原癌基因的特定致病性变异相关。本研究旨在回顾性分析大型MEN2患者队列中个体化、基因型依赖的临床表现。通过将其临床特征与现有循证医学证据进行比较，可为预防性甲状腺切除术及临床随访制定最优治疗与预防策略。本研究为单中心回顾性研究，纳入1990年至2022年间在某三级转诊中心确诊和/或接受手术治疗的158例MEN2患者。所有参与者均根据其RET原癌基因致病性变异进行分类，随后记录疾病临床表现及其发生时间。分析结果显示，除V804M/L突变患者中PCC发生率显著低于预期外，其余结果与现有研究一致。本研究为当前针对这种罕见癌症相关综合征的致病性变异依赖性管理建议提供了支持依据。
肿瘤(癌症)患者之家