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Head and Neck Pathology

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27.02.2016 | Case Report

Rosai–Dorfman Disease Harboring an Activating KRAS K117N Missense Mutation

verfasst von: Vignesh Shanmugam, Elizabeth Margolskee, Michael Kluk, Tamara Giorgadze, Attilio Orazi

Erschienen in: Head and Neck Pathology | Ausgabe 3/2016

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Abstract

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.

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Titel: Rosai–Dorfman Disease Harboring an Activating KRAS K117N Missense Mutation
verfasst von: Vignesh Shanmugam
Elizabeth Margolskee
Michael Kluk
Tamara Giorgadze
Attilio Orazi
Publikationsdatum: 27.02.2016
Verlag: Springer US
Erschienen in: Head and Neck Pathology / Ausgabe 3/2016
Elektronische ISSN: 1936-0568
DOI: https://doi.org/10.1007/s12105-016-0709-6

Klimawandel und Gesundheit: Was Sie in der Hausarztpraxis wissen müssen und tun können

Springer Medizin

Rosai–Dorfman Disease Harboring an Activating KRAS K117N Missense Mutation

Abstract

Neu im Fachgebiet Pathologie

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Personalisierte Medizin in der Onkologie

Klimawandel und Gesundheit: Was Sie in der Hausarztpraxis wissen müssen und tun können

Springer Medizin

Abstract

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