Genetic Alteration Profiles and Clinicopathological Associations in Atypical Parathyroid Adenoma

作者：Xinxin Mao, Yan Wu, Shuangni Yu, Jie Chen · 发表于：International Journal of Genomics · 年份：2021 · DOI：10.1155/2021/6666257 · 被引用次数：13 · 研究领域：Parathyroid Disorders and Treatments、Pancreatic and Hepatic Oncology Research、Genetic Syndromes and Imprinting

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: CDC73 (12, 24%), EZH2 (4, 8%), HIC1 (1, 2%), and CDKN2A (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 de novo, 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.