Binter Teresa, Baumgartner-Parzer Sabina, Schernthaner-Reiter Marie Helene, Arikan Melisa, Hargitai Lindsay, Niederle Martin Bruno, Niederle Bruno, Scheuba Christian, Riss Philipp
Division of Visceral Surgery, Department of General Surgery, Medical University of Vienna, 1090 Vienna, Austria.
Division of Endocrinology and Metabolism, Department of Medicine III, Medical University of Vienna, 1090 Vienna, Austria.
Cancers (Basel). 2024 Jan 24;16(3):494. doi: 10.3390/cancers16030494.
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 the proto-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 the proto-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）在发展为甲状腺髓样癌（MTC）、嗜铬细胞瘤（PCC）和/或原发性甲状旁腺功能亢进症（PHPT）方面的临床表现与原癌基因的各自致病变异有关。本研究的目的是回顾性分析一大群MEN2患者个体的、基因型依赖性的临床表现。通过将他们的临床特征与当前现有的循证知识进行比较，可以确保在预防性甲状腺切除术和临床随访方面采取最佳的治疗和预防策略。这是一项对158例MEN2患者进行的回顾性单中心研究，这些患者于1990年至2022年期间在一家三级转诊护理中心被诊断和/或接受手术治疗。所有参与者均根据原癌基因的致病变异进行分类。随后，记录疾病的临床表现及其发生时间。我们的分析结果与现有研究一致，但V804M/L突变患者中PCC的发生率远低于预期。本研究支持当前关于这种罕见的癌症相关综合征的致病变异依赖性管理的建议。
