Mao Xinxin, Wu Yan, Yu Shuangni, Chen Jie
Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 1 Shuai Fu Yuan Hu Tong, Beijing 100730, China.
Int J Genomics. 2021 Mar 9;2021:6666257. doi: 10.1155/2021/6666257. eCollection 2021.
Genomic aberrations associated with atypical parathyroid adenoma (AA) are poorly understood. Thus, herein, we sought to expand our current understanding of the molecular basis of atypical parathyroid adenomas. We analyzed 134 samples that had been surgically obtained from parathyroid tumors, including parathyroid carcinomas, atypical parathyroid adenomas, and parathyroid adenomas. The tumors were harvested from formalin-fixed, paraffin-embedded tissues. Fifteen tumor-related genes from recently published genome sequencing data were subjected to targeted sequencing analysis, and an average sequencing depth of 500x was achieved. Sixteen (16/50, 32%) AA tumors harbored at least one of the following genomic alterations: (12, 24%), (4, 8%), (1, 2%), and (1, 2%). Our study identified, for the first time, a relatively high frequency of genomic alterations in patients with AA in a Chinese population. This suggests that AA arises , rather than developing from a parathyroid adenoma. Altogether, these findings will improve our understanding of the malignant potential of parathyroid tumors at the molecular level.
与非典型甲状旁腺腺瘤（AA）相关的基因组畸变目前了解甚少。因此，在本文中，我们试图拓展对非典型甲状旁腺腺瘤分子基础的现有认识。我们分析了134例通过手术获取的甲状旁腺肿瘤样本，包括甲状旁腺癌、非典型甲状旁腺腺瘤和甲状旁腺腺瘤。这些肿瘤取自福尔马林固定、石蜡包埋的组织。对最近发表的基因组测序数据中的15个肿瘤相关基因进行靶向测序分析，平均测序深度达到500倍。16例（16/50，32%）AA肿瘤存在以下至少一种基因组改变： （12例，24%）、 （4例，8%）、 （1例，2%）和 （1例，2%）。我们的研究首次在中国人群中发现AA患者基因组改变的频率相对较高。这表明AA是 发生的，而非由甲状旁腺腺瘤发展而来。总之，这些发现将在分子水平上增进我们对甲状旁腺肿瘤恶性潜能的理解。
