The majority of parathyroid disease encountered in routine practice is due to single parathyroid adenoma, of which the majority arise as sporadic tumors. This is usually a straightforward diagnosis in endocrine pathology when in the appropriate clinical setting, although subsets of cases will exhibit atypical histological features that may warrant additional immunohistochemical and genetic analyses to estimate the malignant potential. Parathyroid carcinomas on the other hand, are bona fide malignant tumors characterized by their unequivocal invasion demonstrated through routine histology or metastasis. The ultimate endpoint for any molecular marker discovered through laboratory investigations is to be introduced in clinical routine practice and guide the surgical pathologist in terms of diagnostics and prognostication. For parathyroid tumors, the two main diagnostic challenges include the distinction between parathyroid adenoma and parathyroid carcinoma, as well as the pinpointing of hereditable disease for familial screening purposes. While numerous markers on genetic, epigenetic, and protein levels have been proposed as discriminative in these aspects, this review aims to condense the scientific coverage of these enigmatic topics and to propose a focused surgical pathology approach to the subject.

常规实践中遇到的大多数甲状旁腺疾病是由单个甲状旁腺腺瘤引起的，其中大多数为散发性肿瘤。在适当的临床环境中，这通常是内分泌病理学的直接诊断，尽管部分病例将表现出非典型的组织学特征，可能需要额外的免疫组织化学和遗传分析来估计恶性潜能。另一方面，甲状旁腺癌是真正的恶性肿瘤，其特征是通过常规组织学或转移证明其明确的侵袭。通过实验室研究发现的任何分子标志物的最终终点将被引入临床常规实践，并在诊断和预后方面指导外科病理学家。对于甲状旁腺肿瘤，两个主要的诊断挑战包括区分甲状旁腺腺瘤和甲状旁腺癌，以及为家族筛查目的精确定位可遗传疾病。虽然已经提出了许多关于遗传、表观遗传和蛋白质水平的标记在这些方面具有区别性，但本综述旨在浓缩这些神秘主题的科学覆盖面，并提出针对该主题的重点外科病理学方法。