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基于组学的子宫内膜异位症诊断新策略。

Omics-based novel strategies in the diagnosis of endometriosis.

机构信息

Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Kerman Regional Blood Transfusion Center, Kerman, Iran.

Biochemistry Department, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

出版信息

Crit Rev Clin Lab Sci. 2024 May;61(3):205-225. doi: 10.1080/10408363.2023.2270736. Epub 2023 Oct 25.

DOI:10.1080/10408363.2023.2270736
PMID:37878077
Abstract

Endometriosis, an enigmatic and chronic disorder, is considered a debilitating condition despite being benign. Globally, this gynecologic disorder affects up to 10% of females of reproductive age, impacting almost 190 million individuals. A variety of genetic and environmental factors are involved in endometriosis development, hence the pathophysiology and etiology of endometriosis remain unclear. The uncertainty of the etiology of the disease and its complexity along with nonspecific symptoms have led to misdiagnosis or lack of diagnosis of affected people. Biopsy and laparoscopy are referred to as the gold standard for endometriosis diagnosis. However, the invasiveness of the procedure, the unnecessary operation in disease-free women, and the dependence of the reliability of diagnosis on experience in this area are considered the most significant limitations. Therefore, continuous studies have attempted to offer a noninvasive and reliable approach. The recent advances in modern technologies have led to the generation of large-scale biological data sets, known as -omics data, resulting in the proceeding of the -omics century in biomedical sciences. Thereby, the present study critically reviews novel and noninvasive biomarkers that are based on -omics approaches from 2020 onward. The findings reveal that biomarkers identified based on genomics, epigenomics, transcriptomics, proteomics, and metabolomics are potentially able to diagnose endometriosis, predict prognosis, and stage patients, and potentially, in the near future, a multi-panel of these biomarkers will generate clinical benefits.

摘要

子宫内膜异位症是一种神秘且慢性的疾病,尽管它是良性的,但被认为是一种使人衰弱的疾病。在全球范围内,这种妇科疾病影响了多达 10%的育龄女性,影响了近 1.9 亿人。子宫内膜异位症的发展涉及多种遗传和环境因素,因此其病理生理学和病因仍不清楚。由于病因的不确定性和疾病的复杂性以及非特异性症状,导致了受影响人群的误诊或漏诊。活检和腹腔镜检查被认为是子宫内膜异位症诊断的金标准。然而,该程序的侵入性、对无病妇女的不必要手术以及诊断的可靠性依赖于该领域的经验,这些被认为是最大的局限性。因此,持续的研究试图提供一种非侵入性和可靠的方法。现代技术的最新进展导致了大规模生物数据集的产生,称为“组学”数据,从而在生物医学科学中开启了“组学”世纪。因此,本研究批判性地回顾了 2020 年以来基于“组学”方法的新型非侵入性生物标志物。研究结果表明,基于基因组学、表观基因组学、转录组学、蛋白质组学和代谢组学鉴定的生物标志物有可能诊断子宫内膜异位症、预测预后和分期患者,并且在不久的将来,这些生物标志物的多组可能会带来临床获益。

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