Clinicopathological and Gene Mutation Analysis of 27 Cases with Extranodal Rosai-Dorfman Disease.

Content Provider	Europe PMC
Author	Tang, Ming Gu, Xue-Zhong Wu, Peng-Chun Yang, Xuan-Tao
Copyright Year	2022
Abstract	ObjectiveTo investigate the clinicopathological features, and mutations of NRAS, KRAS, BRAF and MAP2K1 genes in extranodal Rosai–Dorfman disease (RDD).MethodsThe clinic opathological features of 27 patients with extranodal RDD were retrospectively analyzed, and the NRAS, KRAS, BRAF and MAP2K1 genes mutation were detected by Sanger sequencing.ResultsThe male to female ratio was 1.7:1. The average age was 46.9 years. There were skin lesions in 12 cases (44.4%) and head and neck lesions in 8 cases (29.6%). Microscopically, those patients with skin RDD had lesions characterized by clear and dark intervals and obvious emperipolesis, while in other parts, the background was more complex. About 21.1% (4/19) had mutations, including 3 mutations in NRAS 2 exon and 1 mutation in KRAS 2 exon. Two of the three NRAS mutations were located in the skin, accounting for 20% (2/10) of skin RDD.ConclusionExtranodal RDD was more common in males than in females, and might occur in all ages, with a greater incidence in skin, head, and neck. Besides the obvious microscopic characteristics in those with skin RDD, the background of other parts was complex and easily missed or misdiagnosed. Some RDD with gene mutations, mainly in NRAS 2 exon, especially in skin RDD, support partial RDD is a clonal disease.
Page Count	13
Journal	Journal of Inflammation Research
Volume Number	15
PubMed Central reference number	PMC9064053
PubMed reference number	35518839
e-ISSN	11787031
DOI	10.2147/JIR.S365098
Language	English
Publisher	Dove
Publisher Date	2022-04-29
Access Restriction	Open
Rights License	This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php). © 2022 Tang et al.
Subject Keyword	Rosai–Dorfman disease clinical pathology gene mutation NRAS KRAS BRAF MAP2K1 diagnosis identification
Content Type	Text
Resource Type	Article
Subject	Immunology Immunology and Allergy