Department of Experimental and Clinical Biomedical Sciences, University of Florence, 50139 Florence, Italy.
F.I.R.M.O. Fondazione Italiana Ricerca sulle Malattie dell'Osso (Italian Foundation for the Research on Bone Diseases), 50141 Florence, Italy.
Int J Mol Sci. 2021 Oct 18;22(20):11206. doi: 10.3390/ijms222011206.
Parathyroid tumors are rare endocrine neoplasms affecting 0.1-0.3% of the general population, including benign parathyroid adenomas (PAs; about 98% of cases), intermediate atypical parathyroid adenomas (aPAs; 1.2-1.3% of cases) and malignant metastatic parathyroid carcinomas (PCs; less than 1% of cases). These tumors are characterized by a variable spectrum of clinical phenotypes and an elevated cellular, histological and molecular heterogeneity that make it difficult to pre-operatively distinguish PAs, aPAs and PCs. Thorough knowledge of genetic, epigenetic, and molecular signatures, which characterize different parathyroid tumor subtypes and drive different tumorigeneses, is a key step to identify potential diagnostic biomarkers able to distinguish among different parathyroid neoplastic types, as well as provide novel therapeutic targets and strategies for these rare neoplasms, which are still a clinical and therapeutic challenge. Here, we review the current knowledge on gene mutations and epigenetic changes that have been associated with the development of different clinical types of parathyroid tumors, both in familial and sporadic forms of these endocrine neoplasms.
甲状旁腺肿瘤是一种罕见的内分泌肿瘤，影响 0.1-0.3%的普通人群，包括良性甲状旁腺腺瘤（PAs；约 98%的病例）、中间型不典型甲状旁腺腺瘤（aPAs；1.2-1.3%的病例）和恶性转移性甲状旁腺癌（PCs；不到 1%的病例）。这些肿瘤的临床表型具有不同的特征，且存在细胞、组织学和分子异质性，这使得术前难以区分 PAs、aPAs 和 PCs。深入了解遗传、表观遗传和分子特征，这些特征可区分不同的甲状旁腺肿瘤亚型并驱动不同的肿瘤发生，是识别潜在诊断生物标志物的关键步骤，这些生物标志物能够区分不同的甲状旁腺肿瘤类型，并为这些罕见肿瘤提供新的治疗靶点和策略，这些肿瘤仍然是临床和治疗方面的挑战。在这里，我们回顾了与不同类型甲状旁腺肿瘤发生相关的基因突变和表观遗传变化的最新知识，包括这些内分泌肿瘤的家族性和散发性形式。
