Genetic Alteration Profiles and Clinicopathological Associations in Atypical Parathyroid Adenoma

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, includi...

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Main Authors: Xinxin Mao, Yan Wu, Shuangni Yu, Jie Chen
Format: Article
Language:English
Published: Wiley 2021-01-01
Series:International Journal of Genomics
Online Access:http://dx.doi.org/10.1155/2021/6666257
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author Xinxin Mao
Yan Wu
Shuangni Yu
Jie Chen
author_facet Xinxin Mao
Yan Wu
Shuangni Yu
Jie Chen
author_sort Xinxin Mao
collection DOAJ
description 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.
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spelling doaj-art-ae991ca9fed34dcd9a8a57e38b503c3d2025-08-20T02:23:08ZengWileyInternational Journal of Genomics2314-436X2314-43782021-01-01202110.1155/2021/66662576666257Genetic Alteration Profiles and Clinicopathological Associations in Atypical Parathyroid AdenomaXinxin Mao0Yan Wu1Shuangni Yu2Jie Chen3Department 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, ChinaDepartment 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, ChinaDepartment 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, ChinaDepartment 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, ChinaGenomic 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.http://dx.doi.org/10.1155/2021/6666257
spellingShingle Xinxin Mao
Yan Wu
Shuangni Yu
Jie Chen
Genetic Alteration Profiles and Clinicopathological Associations in Atypical Parathyroid Adenoma
International Journal of Genomics
title Genetic Alteration Profiles and Clinicopathological Associations in Atypical Parathyroid Adenoma
title_full Genetic Alteration Profiles and Clinicopathological Associations in Atypical Parathyroid Adenoma
title_fullStr Genetic Alteration Profiles and Clinicopathological Associations in Atypical Parathyroid Adenoma
title_full_unstemmed Genetic Alteration Profiles and Clinicopathological Associations in Atypical Parathyroid Adenoma
title_short Genetic Alteration Profiles and Clinicopathological Associations in Atypical Parathyroid Adenoma
title_sort genetic alteration profiles and clinicopathological associations in atypical parathyroid adenoma
url http://dx.doi.org/10.1155/2021/6666257
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