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染色中期染色体板的核型图谱:形态细微差别、免疫学关联及临床相关性。

The spectrum of nuclear patterns with stained metaphase chromosome plate: morphology nuances, immunological associations, and clinical relevance.

作者信息

de Melo Cruvinel Wilson, Ferreira Guilherme Guerra, de Souza Lais Laura, da Costa Veloso Neto Wilson, Gomes Clayson Moura, Francescantonio Paulo Luiz Carvalho, Andrade Luis Eduardo Coelho

机构信息

School of Medical and Life Sciences, 285660 Pontifícia Universidade Católica de Goiás (PUC GOIÁS) , Goiânia, GO, Brazil.

Instituto de Pós-Graduação e Graduação (IPOG), Goiânia, GO, Brazil.

出版信息

Clin Chem Lab Med. 2025 Jun 18;63(10):1915-1927. doi: 10.1515/cclm-2025-0286. Print 2025 Sep 25.

DOI:10.1515/cclm-2025-0286
PMID:40526276
Abstract

The indirect immunofluorescence assay (IFA) on HEp-2 cells is the prevailing method used to screen for autoantibodies in the investigation of systemic autoimmune diseases (SAID). When positive, the titer provides a semi-quantitative assessment of the autoantibody serum concentration whereas the immunofluorescence pattern indicates the possible autoantibody specificities. The Brazilian Consensus on ANA Patterns (BCA) and the International Consensus on ANA Patterns (ICAP) provide recommendations for the harmonization on the pattern nomenclature and test reporting. Nuclear patterns are among the most frequent in the clinical laboratory and some of them are highly relevant in the diagnosis of SAID. Nuclear patterns with stained metaphase plate (MP) indicate autoantibodies against chromatin components or against chromatin-bound antigens. These include the nuclear homogeneous (AC-1), nuclear dense fine speckled (AC-2), Topo 1-like (AC-29), and nuclear fine speckled with stained MP (AC-30) patterns. The Brazilian consensus has also classified the -homogeneous nuclear pattern (QH). The correct identification of these patterns is important because each one is associated with different autoantibody specificities and clinical scenarios. However, the recognition of the nuances in texture of the staining pattern and other specific features that characterize each of them may be challenging for the analyst at the microscope. This review focuses on the morphological characteristics, immunological identities, and clinical relevance of nuclear patterns with stained MP. The aim is to assist laboratory analysts and clinicians in identifying and interpreting these patterns, thus optimizing the use of the HEp-2 IFA test in the investigation of patients under suspicion of SAID.

摘要

在系统性自身免疫性疾病(SAID)的研究中,采用人喉表皮样癌细胞(HEp-2细胞)间接免疫荧光法(IFA)是筛查自身抗体的常用方法。检测结果呈阳性时,滴度可对自身抗体血清浓度进行半定量评估,而免疫荧光模式则可显示可能的自身抗体特异性。巴西抗核抗体模式共识(BCA)和国际抗核抗体模式共识(ICAP)就模式命名和检测报告的统一提供了建议。核模式是临床实验室中最常见的模式类型,其中一些与SAID的诊断高度相关。带有染色中期板(MP)的核模式表明存在针对染色质成分或染色质结合抗原的自身抗体。这些模式包括核均质型(AC-1)、核致密细颗粒型(AC-2)、拓扑异构酶1样型(AC-29)和带有染色MP的核细颗粒型(AC-30)。巴西共识还对均质核模式(QH)进行了分类。正确识别这些模式很重要,因为每种模式都与不同的自身抗体特异性和临床情况相关。然而,对于显微镜前的分析人员来说,识别染色模式质地的细微差别以及每种模式的其他特征可能具有挑战性。本综述重点关注带有染色MP的核模式的形态特征、免疫学特性和临床相关性。目的是帮助实验室分析人员和临床医生识别和解释这些模式,从而在疑似SAID患者的调查中优化HEp-2 IFA检测的应用。

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