Journal of Inflammation Research (Apr 2022)
Clinicopathological and Gene Mutation Analysis of 27 Cases with Extranodal Rosai–Dorfman Disease
Abstract
Ming Tang,1,* Xue-Zhong Gu,2,* Peng-Chun Wu,3 Xuan-Tao Yang1 1Department of Pathology, the First People’s Hospital of Yunnan Province, the Affiliated Hospital of Kunming University of Science and Technology, Kunming, 650032, People’s Republic of China; 2Department of Hematology, the First People’s Hospital of Yunnan Province, Yunnan Blood Disease Clinical Medical Research Center, the Affiliated Hospital of Kunming University of Science and Technology, Kunming, 650032, People’s Republic of China; 3Department of Pathology, Kunming Kingmed Institute for Clinical Laboratory, Kunming, 650506, People’s Republic of China*These authors contributed equally to this workCorrespondence: Xuan-Tao Yang, Department of Pathology, the First People’s Hospital of Yunnan Province, the Affiliated Hospital of Kunming University of Science and Technology, No. 157 of Jinbi Road, Xishan District, Kunming, 650032, People’s Republic of China, Tel +86 871 63638441, Email [email protected] Peng-Chun Wu, Department of Pathology, Kunming Kingmed Institute for Clinical Laboratory, K13-K14, Daliyuan Road, Chenggong District, Kunming, 650506, People’s Republic of China, Tel +86 871 68172222, Email [email protected]: To investigate the clinicopathological features, and mutations of NRAS, KRAS, BRAF and MAP2K1 genes in extranodal Rosai–Dorfman disease (RDD).Methods: The 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.Results: The 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.Conclusion: Extranodal 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.Keywords: Rosai–Dorfman disease, clinical pathology, gene mutation, NRAS, KRAS, BRAF, MAP2K1, diagnosis, identification
