验证金属硫蛋白免疫组织化学作为威尔逊氏病高灵敏度筛查试验的效果

IF 7.1 1区 医学 Q1 PATHOLOGY Modern Pathology Pub Date : 2024-10-09 DOI:10.1016/j.modpat.2024.100628
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引用次数: 0

摘要

威尔逊氏病(WD)是一种罕见的常染色体隐性遗传病,其临床表现多变,是由双侧ATP7B突变引起的。然而,临床上应用于组织标本的非破坏性组织检验并不广泛,无法有效评估患者是否可能患有威尔森氏病。此前,我们发现金属硫蛋白(MTH)免疫组化对 WD 诊断具有很高的灵敏度和特异性,因此是一种可用于常规组织切片的潜在强大诊断工具。我们试图在一大批真正的 WD 患者中验证这一发现,并将金属硫蛋白的表达与其他组织学特征相关联。我们确定了 91 例 WD 病例,其中包括来自全球 14 个中心的 28 例针活检和 64 例组织切片。我们对组织学特征进行了评估,并为每个病例指定了一种组织病理学模式。所有病例均采用马森三色染色法和 MTH 免疫组织化学法(克隆 UC1MT,Abcam 公司)进行评估,采用的是之前已发表的技术。慢性胆汁淤积性疾病的肝组织(42 例)作为对照。组群的中位年龄为 28.5 岁。在 91 个病例中,83 个病例的 MTH 免疫印迹呈阳性。在对照组中,42 个病例的 MTH 免疫印迹均为阴性。MTH免疫印迹对WD的敏感性和特异性分别为91.20%和100%。MTH免疫组化是一种高度灵敏、特异且经济有效的WD筛查工具。它可用于不同年龄组、不同组织学形态和不同纤维化阶段的患者。在评估可能患有 WD 的患者时,该标记物可能被证明是一种有价值的工具。
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Validation of Metallothionein Immunohistochemistry as a Highly Sensitive Screening Test for Wilson Disease
Wilson disease (WD) is a rare autosomal recessive condition with protean clinical manifestations that result from biallelic ATP7B mutations. However, nondestructive tissue tests to be applied clinically to tissue specimens are not widely available to effectively assess patients for possible WD. Previously, we showed that metallothionein (MTH) immunohistochemistry (IHC) has a high sensitivity and specificity for WD diagnosis and, thus, represents a potentially powerful diagnostic tool that can be used in routine histologic sections. This study aimed to validate this finding in a large cohort of bona fide patients with WD and to correlate metallothionein expression with other histologic features. We identified 91 cases of WD, which included 28 needle biopsies and 64 explants from 14 centers worldwide. Histologic features were evaluated, and a histopathological pattern was assigned to each case. All cases were evaluated with Masson trichrome and MTH IHC (clone UC1MT, Abcam) using a previously published technique. Liver tissues from chronic cholestatic diseases (n = 42) were used as controls. The median age of the cohort was 28.5 years. Of the 91 total cases, 83 were positive for MTH immunostain. In the controls, all 42 cases were negative for MTH immunostain. The sensitivity and specificity of MTH immunostain for WD were 91.20% and 100%, respectively. MTH IHC is a highly sensitive and specific cost-effective screening tool for WD. It can be used for patients across age groups, varied histologic patterns, and fibrosis stages. This marker could prove to be a valuable tool in the evaluation of patients with possible WD.
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来源期刊
Modern Pathology
Modern Pathology 医学-病理学
CiteScore
14.30
自引率
2.70%
发文量
174
审稿时长
18 days
期刊介绍: Modern Pathology, an international journal under the ownership of The United States & Canadian Academy of Pathology (USCAP), serves as an authoritative platform for publishing top-tier clinical and translational research studies in pathology. Original manuscripts are the primary focus of Modern Pathology, complemented by impactful editorials, reviews, and practice guidelines covering all facets of precision diagnostics in human pathology. The journal's scope includes advancements in molecular diagnostics and genomic classifications of diseases, breakthroughs in immune-oncology, computational science, applied bioinformatics, and digital pathology.
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