Rosai‐Dorfman‐Destombes Disease: A Clonal Histiocytic Neoplasm

Authors: Sood S and Gulati R*

DOI: 10.23880/cprj-16000131

Volume 5, Issue 1

Abstract

Rosai‐Dorfman‐Destombes disease (RDD) has long been identified as a non-clonal histiocytic proliferation presenting with bulky lymphadenopathy. The recent decade has shown a significant paradigm shift in understanding the pathophysiology of histiocytic neoplasia. Mutations in genes causing constitutive activation of the MAPK/ERK pathway in nearly half of RDD cases have highlighted its clonal origin. Also, the knowledge of the pathway has led to the utilization of targeted therapy including MEK inhibitor cobimetinib in the management of refractory cases. We provide a brief review of the genetic analysis of sporadic RDD highlighting the utility of molecular analysis in clinical practice.

Keywords: Histiocytic Proliferation; Rosai Dorfman Destombes Disease; Sinus Histiocytosis with massive Lymphadenopathy; Clonal; MAPK/ERK; BRAF; MEK Inhibitor Cobimetinib

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