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

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-relat...

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Published in:Clinical immunology (Orlando, Fla.) Fla.), 2024-08, Vol.265, p.110299, Article 110299
Main Authors: Detiger, S.E., Paridaens, D., Kemps, P.G., van Halteren, A.G.S., van Hagen, P.M., van Laar, J.A.M., Verdijk, R.M.
Format: Article
Language:English
Subjects:
Adult orbital xanthogranuloma
Adult-onset asthma and periocular xanthogranuloma
Erdheim-Chester disease
Histiocytic neoplasms
MAPK pathway
Necrobiotic xanthogranuloma
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Summary: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.
ISSN:1521-6616
1521-7035
1521-7035
DOI:10.1016/j.clim.2024.110299