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甲状旁腺肿瘤中的遗传和表观遗传改变

Genetic and Epigenetic Alterations in Parathyroid Neoplasms.

作者信息

Miratashi Yazdi Seyed Amir, Nazar Elham

机构信息

Department of General Surgery, Sina Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Department of Pathology, Sina Hospital, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

Iran J Pathol. 2022 Fall;17(4):395-405. doi: 10.30699/ijp.2022.551233.2865. Epub 2022 Aug 25.

DOI:10.30699/ijp.2022.551233.2865
PMID:36532647
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9745749/
Abstract

The exact etiology of parathyroid carcinomas (PC) is still unknown. Their associations have with several inherited syndromes or specific genetic lesions have been established. The management of PC is challenging for clinicians. The complexity of molecular phenotypes increases with tumor aggressiveness. Lack of parafibromin on immunohistochemistry staining and HRPT2 mutation would be helpful in differentiation of carcinoma from adenoma. Lack of parafibromin expression, the gene product of HRPT2 is now used as a diagnostic, prognostic, and predictive marker for parathyroid carcinoma. The epigenetic alteration, for example, DNA methylation and modifications in the chromatin structure, are known as significant events involved in the parathyroid tumorigenesis. We suggest that adjuvant genetic and epigenetic target therapy should be considered in treatment of the patients with PC.

摘要

甲状旁腺癌(PC)的确切病因仍不清楚。其与几种遗传性综合征或特定基因病变的关联已被确定。PC的治疗对临床医生来说具有挑战性。分子表型的复杂性随着肿瘤侵袭性的增加而增加。免疫组织化学染色缺乏 parafibromin 以及 HRPT2 突变有助于将癌与腺瘤区分开来。缺乏 parafibromin 表达,即 HRPT2 的基因产物,现在被用作甲状旁腺癌的诊断、预后和预测标志物。表观遗传改变,例如 DNA 甲基化和染色质结构修饰,是甲状旁腺肿瘤发生过程中的重要事件。我们建议在PC患者的治疗中应考虑辅助性基因和表观遗传靶向治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4999/9745749/6eaa4c4b7287/ijp-17-395-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4999/9745749/6eaa4c4b7287/ijp-17-395-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4999/9745749/6eaa4c4b7287/ijp-17-395-g001.jpg

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本文引用的文献

1
Histone Modification on Parathyroid Tumors: A Review of Epigenetics.甲状旁腺肿瘤的组蛋白修饰:表观遗传学综述。
Int J Mol Sci. 2022 May 11;23(10):5378. doi: 10.3390/ijms23105378.
2
MicroRNA Profile Alterations in Parathyroid Carcinoma: Latest Updates and Perspectives.甲状旁腺癌中的微小RNA谱改变:最新进展与展望
Cancers (Basel). 2022 Feb 10;14(4):876. doi: 10.3390/cancers14040876.
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Overview of the 2022 WHO Classification of Parathyroid Tumors.《2022 年世卫组织甲状旁腺肿瘤分类概述》。
Endocr Pathol. 2022 Mar;33(1):64-89. doi: 10.1007/s12022-022-09709-1. Epub 2022 Feb 17.
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Aberrant Epigenetic Alteration of PAX1 Expression Contributes to Parathyroid Tumorigenesis.PAX1 表达的异常表观遗传改变导致甲状旁腺肿瘤发生。
J Clin Endocrinol Metab. 2022 Jan 18;107(2):e783-e792. doi: 10.1210/clinem/dgab626.
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Hereditary Parathyroid Disease: Sometimes Pathologists Do Not Know What They Are Missing.遗传性甲状旁腺疾病:有时病理学家不知道自己遗漏了什么。
Endocr Pathol. 2020 Sep;31(3):218-230. doi: 10.1007/s12022-020-09631-4.
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The Emerging Role of Succinate Dehyrogenase Genes (SDHx) in Tumorigenesis.琥珀酸脱氢酶基因(SDHx)在肿瘤发生中的新作用。
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Evaluation of preoperative ultrasonographic and biochemical features of patients with aggressive parathyroid disease: is there a reliable predictive marker?侵袭性甲状旁腺疾病患者术前超声和生化特征的评估:是否存在可靠的预测标志物?
Arch Endocrinol Metab. 2016 Nov-Dec;60(6):537-544. doi: 10.1590/2359-3997000000224. Epub 2016 Nov 24.
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Differentiating Atypical Parathyroid Neoplasm from Parathyroid Cancer.鉴别非典型甲状旁腺肿瘤与甲状旁腺癌。
Ann Surg Oncol. 2016 Sep;23(9):2889-97. doi: 10.1245/s10434-016-5248-6. Epub 2016 May 9.
10
Molecular genetics and epigenetics of nonfamilial (sporadic) parathyroid tumours.非家族性(散发性)甲状旁腺肿瘤的分子遗传学和表观遗传学。
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