Abstract：
CDC73 alterations are associated with three main parathyroid lesions according to the World Health Organization (WHO) classification of tumors of the endocrine system. These include hyperparathyroidism-jaw tumor (HPT-JT) syndrome-associated adenomas, atypical parathyroid tumors (APTs), and parathyroid carcinomas (PCs). The loss of nuclear parafibromin expression, which serves as a surrogate marker for the underlying CDC73 alteration, encompasses these tumors under the term parafibromin-deficient parathyroid tumors. They have distinct morphologic features of more abundant eosinophilic cytoplasm with perinuclear clearing surrounding a large nucleus as well as prominent dilated branching \"hemangiopericytoma-like\" vasculature and a thick capsule as well as variably sized cystic spaces. These tumors include cases that show unequivocal histologic features fulfilling the criteria for PCs with growing data indicating a higher rate of recurrence or metastasis compared with parafibromin intact PCs. More importantly, the loss of parafibromin expression can be used in clinical practice to recognize APTs that fall short of a conclusive diagnosis of PCs, but clinically behave akin to them. Moreover, recognizing these tumors can lead to an underlying germline mutation and a diagnosis of HPT-JT, which impacts long-term treatment and surveillance for patients and close family.
摘要：
根据世界卫生组织（WHO）对内分泌系统肿瘤的分类，CDC73改变与三种主要的甲状旁腺病变有关。这些包括甲状旁腺功能亢进-颌骨肿瘤（HPT-JT）综合征相关腺瘤，非典型甲状旁腺肿瘤（APT），和甲状旁腺癌（PC）。核旁纤蛋白表达的丧失，作为潜在CDC73改变的替代标记，在术语纤维旁蛋白缺陷的甲状旁腺肿瘤下包括这些肿瘤。它们具有明显的形态学特征，即更丰富的嗜酸性细胞质，核周清除周围的大细胞核以及明显的扩张分支“血管外皮细胞瘤样”脉管系统和厚囊以及大小不同的囊性空间。这些肿瘤包括显示出明确的组织学特征的病例，这些特征符合PC的标准，并且数据不断增长，表明与纤维旁蛋白完整PC相比，复发或转移率更高。更重要的是,纤维旁蛋白表达的丧失可用于临床实践，以识别缺乏对PC的结论性诊断的APT，但在临床上表现得与他们相似。此外，识别这些肿瘤可以导致潜在的种系突变和HPT-JT的诊断，这影响了患者和近亲的长期治疗和监测。
