Open AccessSystemic and Craniospinal Rosai Dorfman Disease with Intraparenchymal, Intramedullary and Leptomeningeal Disease
Author(s) -
Yang Li,
Emily A. Sloan,
Andrew W. Bollen,
David A. Solomon,
Philip V. Theodosopoulos,
Soonmee Cha
Publication year - 2021
Publication title -
international journal of hematology- oncology and stem cell research.
Language(s) - English
Resource type - Journals
eISSN - 2008-3009
pISSN - 2008-2207
DOI - 10.18502/ijhoscr.v15i4.7482
Subject(s) - rosai–dorfman disease , medicine , sinus histiocytosis with massive lymphadenopathy , pathology , histiocyte , disease , sinus (botany) , biopsy , biology , botany , genus
Rosai Dorfman disease is a rare histiocytic disorder of over-production of non-Langerhans histiocytes, which typically manifests with massive lymphadenopathy and sinonasal involvement. We report a rare case of systemic and disseminated craniospinal Rosai-Dorfman disease with intraparenchymal and leptomeningeal involvement, but no sinus or dural-based disease. The diagnosis was established by biopsy of a hypothalamic mass. Additionally, UCSF500 Next Generation Sequencing demonstrated a solitary pathogenic alteration affecting the BRAF oncogene, which supports the morphologic and immunohistochemical diagnosis of Rosai-Dorfman disease.