Rosai-Dorfman Disease Harboring an Activating KRAS K117N Missense Mutation. Head Neck Pathol 2016 Sep;10(3):394-9
Date
02/29/2016Pubmed ID
26922062Pubmed Central ID
PMC4972763DOI
10.1007/s12105-016-0709-6Scopus ID
2-s2.0-84975743720 (requires institutional sign-in at Scopus site) 58 CitationsAbstract
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.
Author List
Shanmugam V, Margolskee E, Kluk M, Giorgadze T, Orazi AAuthor
Tamara Giorgadze MD Professor in the Pathology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Biomarkers, TumorHistiocytosis, Sinus
Humans
Immunohistochemistry
Male
Middle Aged
Mutation, Missense
Proto-Oncogene Proteins p21(ras)
