Rosai–Dorfman Disease Harboring an Activating KRAS K117N Missense Mutation

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• 作者：Vignesh Shanmugam ; Elizabeth Margolskee ; Michael Kluk…
• 刊名：Head and Neck Pathology
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：10
• 期：3
• 页码：394-399
• 全文大小：963 KB
• 刊物主题：Pathology; Otorhinolaryngology; Oral and Maxillofacial Surgery; Dentistry;
• 出版者：Springer US
• ISSN：1936-0568
• 卷排序：10

文摘

Rosai–Dorfman disease (RDD) or sinus histiocytosis with massive lymphadenopathy is a rare histiocytic proliferation that is generally considered to be reactive with a benign clinical course. The etiology of RDD is very poorly understood. Recent studies have shown frequent BRAF, NRAS, KRAS, and PIK3CA activating mutations in several histiocytic neoplasms highlighting the emerging importance of the RAF/MEK/ERK pathway in the pathogenesis of these diseases. Here we report a case of Rosai–Dorfman disease involving the submandibular salivary gland with a KRAS K117N missense mutation discovered by next-generation sequencing. These results suggest that at least a subset of RDD cases may be clonal processes. Further mutational studies on this rare histiocytic disease should be undertaken to better characterize its pathogenesis as well as open up potential avenues for therapy.KeywordsHistiocytosisRosai–Dorfman diseaseNext generation sequencingSinus histiocytosis with massive lymphadenopathyClonalityPathogenesis