Rosai-Dorfman Disease Harboring an Activating KRAS K117N Missense Mutation.

TitleRosai-Dorfman Disease Harboring an Activating KRAS K117N Missense Mutation.
Publication TypeJournal Article
Year of Publication2016
AuthorsShanmugam V, Margolskee E, Kluk M, Giorgadze T, Orazi A
JournalHead Neck Pathol
Date Published2016 Sep
KeywordsBiomarkers, Tumor, Histiocytosis, Sinus, Humans, Immunohistochemistry, Male, Middle Aged, Mutation, Missense, Proto-Oncogene Proteins p21(ras)

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.

Alternate JournalHead Neck Pathol
PubMed ID26922062
PubMed Central IDPMC4972763