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散发性甲状旁腺腺瘤:分子遗传学的最新综述。

Sporadic parathyroid adenoma: an updated review of molecular genetics.

机构信息

1st Propedeutic Department of Surgery, AHEPA University Hospital of Thessaloniki, Aristotle University of Thessaloniki, Thessaloniki, Greece.

Laboratory of Pathology, Faculty of Medicine, School of Health Sciences, Aristotle University, Thessaloniki, Greece.

出版信息

Front Endocrinol (Lausanne). 2023 May 8;14:1180211. doi: 10.3389/fendo.2023.1180211. eCollection 2023.


DOI:10.3389/fendo.2023.1180211
PMID:37223014
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10200975/
Abstract

INTRODUCTION: Primary HPT (PHPT) is a common disorder, affecting approximately 1% of the general population. Parathyroid adenomas emerge as non-familial sporadic in 90% of cases. The aim of this review is to give a detailed update of molecular genetics of sporadic parathyroid adenoma reported in international literature. METHODS: A bibliographic research was conducted in PubMed, Google Scholar, and Scopus. RESULTS: Seventy-eight articles were included in our review. CaSR, MEN1, CCND1/PRAD, CDKI, angiogenic factors like VEGF, FGF, TGFβ, and IGF1, and apoptotic factors are important genes in parathyroid adenomas pathogenesis that have been established by several studies. A huge list of proteins is differently expressed in parathyroid adenomas measured by Western Blotting, MALDI/TOF, MS spectrometry, and immunohistochemistry. These proteins take part in several cell processes such as cell metabolism, cytoskeleton structural stability, cell oxidative stress regulation, cell death, transcription, translation, cell connection, and cell signaling transmission, while they can be found over- or underexpressed in abnormal tissues. CONCLUSION: This review gives a detailed analysis of all reported data on genomics and proteomics of parathyroid adenoma. Further studies should be applied on understanding parathyroid adenoma pathogenesis and introducing new biomarkers for early detection of primary hyperparathyroidism.

摘要

简介:原发性甲状旁腺功能亢进症(PHPT)是一种常见疾病,影响约 1%的普通人群。甲状旁腺腺瘤在 90%的病例中是非家族性散发性的。本综述的目的是详细介绍国际文献中报道的散发性甲状旁腺腺瘤的分子遗传学。

方法:在 PubMed、Google Scholar 和 Scopus 上进行了文献检索。

结果:共纳入 78 篇文章。钙敏感受体(CaSR)、MEN1、CCND1/PRAD、细胞周期蛋白依赖性激酶抑制剂(CDKI)、血管生成因子如血管内皮生长因子(VEGF)、成纤维细胞生长因子(FGF)、转化生长因子β(TGFβ)和胰岛素样生长因子 1(IGF1)以及凋亡因子是几个研究已经确定的甲状旁腺腺瘤发病机制中的重要基因。Western Blotting、MALDI/TOF、MS 谱和免疫组织化学等方法测量的甲状旁腺腺瘤中存在大量差异表达的蛋白质。这些蛋白质参与细胞代谢、细胞骨架结构稳定性、细胞氧化应激调节、细胞死亡、转录、翻译、细胞连接和细胞信号转导等多种细胞过程,同时在异常组织中可能存在过表达或低表达。

结论:本综述对甲状旁腺腺瘤的基因组学和蛋白质组学的所有报道数据进行了详细分析。进一步的研究应该应用于理解甲状旁腺腺瘤的发病机制,并引入新的生物标志物用于原发性甲状旁腺功能亢进症的早期检测。

相似文献

[1]
Sporadic parathyroid adenoma: an updated review of molecular genetics.

Front Endocrinol (Lausanne). 2023

[2]
Molecular pathogenesis of primary hyperparathyroidism.

J Bone Miner Res. 2002-11

[3]
Analysis of Activating GCM2 Sequence Variants in Sporadic Parathyroid Adenomas.

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[4]
Genetic and epigenetic changes in sporadic endocrine tumors: parathyroid tumors.

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[5]
Genetics of parathyroid tumours.

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[6]
Molecular profiles of oxyphilic and chief cell parathyroid adenoma.

Mol Cell Endocrinol. 2017-10-3

[7]
Reduced Calcium Sensing Receptor (CaSR) Expression Is Epigenetically Deregulated in Parathyroid Adenomas.

J Clin Endocrinol Metab. 2020-9-1

[8]
Molecular genetic insights into sporadic primary hyperparathyroidism.

Endocr Relat Cancer. 2019-2-1

[9]
Whole-Exome Sequencing Identifies Novel Recurrent Somatic Mutations in Sporadic Parathyroid Adenomas.

Endocrinology. 2018-8-1

[10]
Gene expression profiles in parathyroid adenoma and normal parathyroid tissue.

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引用本文的文献

[1]
Long-Term Consequences of Misdiagnosis of Parathyroid Adenomas in Pediatric Patients.

Case Rep Pediatr. 2025-7-8

[2]
Heterogeneous Transcriptional Landscapes in Human Sporadic Parathyroid Gland Tumors.

Int J Mol Sci. 2024-10-7

[3]
KMT2A and chronic inflammation as potential drivers of sporadic parathyroid adenoma.

Clin Transl Med. 2024-6

[4]
Incidentally detected follicular thyroid carcinoma mimicking parathyroid adenoma on Tc-99m MIBI scan: A case report.

Medicine (Baltimore). 2024-5-3

[5]
Persistent hypercalcaemia associated with two pathogenic variants in the gene and a parathyroid adenoma-a case report and review.

Front Endocrinol (Lausanne). 2024

本文引用的文献

[1]
Normocalcemic primary hyperparathyroidism.

Arch Endocrinol Metab. 2022-11-11

[2]
Evaluation and Management of Primary Hyperparathyroidism: Summary Statement and Guidelines from the Fifth International Workshop.

J Bone Miner Res. 2022-11

[3]
Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.

Front Endocrinol (Lausanne). 2022

[4]
Overview of the 2022 WHO Classification of Parathyroid Tumors.

Endocr Pathol. 2022-3

[5]
Parathyroid Tumors: Molecular Signatures.

Int J Mol Sci. 2021-10-18

[6]
Normocalcemic Hyperparathyroidism: A Heterogeneous Disorder Often Misdiagnosed?

JBMR Plus. 2020-7-24

[7]
Dysregulated mitogen-activated protein kinase pathway mediated cell cycle disruption in sporadic parathyroid tumors.

J Endocrinol Invest. 2019-9-18

[8]
Analysis of Activating GCM2 Sequence Variants in Sporadic Parathyroid Adenomas.

J Clin Endocrinol Metab. 2019-6-1

[9]
Molecular genetic insights into sporadic primary hyperparathyroidism.

Endocr Relat Cancer. 2019-2-1

[10]
Quantitative proteomics analysis of sporadic parathyroid adenoma tissue samples.

J Endocrinol Invest. 2018-10-3

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