Histological evidence of MAPK pathway activation across subtypes of adult orbital xanthogranulomatous disease irrespective of the detection of oncogenic mutations

IF 4.5 3区医学 Q2 IMMUNOLOGY Clinical immunology Pub Date : 2024-06-25 DOI:10.1016/j.clim.2024.110299

S.E. Detiger , D. Paridaens , P.G. Kemps , A.G.S. van Halteren , P.M. van Hagen , J.A.M. van Laar , R.M. Verdijk

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Abstract

Adult orbital xanthogranulomatous disease (AOXGD) is a spectrum of histiocytoses with four subtypes. Mitogen-activated protein kinase (MAPK) pathway mutations have been detected in various histiocytic neoplasms, little is known about this in AOXGD. Targeted regions of cancer- and histiocytosis-related genes were analyzed and immunohistochemical staining of phosphorylated ERK (pERK), cyclin D1 and PU.1 was performed in 28 AOXGD and 10 control xanthelasma biopsies to assess MAPK pathway activation.

Mutations were detected in 7/28 (25%) patients. Positive staining for pERK and/or cyclin D1 was found across all subtypes in 17/27 (63%) patients of whom 12/17 (71%) did not harbour a mutation. Xanthelasma tissue stained negative for pERK and cyclin D1. Relapse occurred in 5/7 (71%) patients with a MAPK pathway mutation compared to 8/21 (38%) patients in whom no mutation could be detected.

Molecular analysis and evaluation for systemic disease is warranted to identify patients at risk of recurrent xanthomatous disease.

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无论是否检测到致癌基因突变，成人眼眶黄疽性疾病各亚型均有MAPK通路激活的组织学证据。

成人眼眶黄疽性疾病（AOXGD）是一种组织细胞病，有四个亚型。在多种组织细胞瘤中都检测到了丝裂原活化蛋白激酶（MAPK）通路突变，但在AOXGD中却鲜为人知。我们分析了癌症和组织细胞病相关基因的靶区，并对 28 例 AOXGD 和 10 例对照黄疽活检组织中的磷酸化 ERK（pERK）、细胞周期蛋白 D1 和 PU.1 进行了免疫组化染色，以评估 MAPK 通路的激活情况。在 7/28 例（25%）患者中检测到了突变。在所有亚型中，17/27（63%）例患者的 pERK 和/或细胞周期蛋白 D1 染色阳性，其中 12/17（71%）例患者未发现突变。黄疽组织的pERK和细胞周期蛋白D1染色阴性。5/7（71%）例 MAPK 通路突变的患者复发，而 8/21 （38%）例未检测到突变的患者复发。有必要进行分子分析和全身性疾病评估，以确定有复发黄疽风险的患者。

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来源期刊

Clinical immunology 医学-免疫学

CiteScore

12.30

自引率

1.20%

发文量

212

审稿时长

34 days

期刊介绍： Clinical Immunology publishes original research delving into the molecular and cellular foundations of immunological diseases. Additionally, the journal includes reviews covering timely subjects in basic immunology, along with case reports and letters to the editor.