BRAFV600E expression in histiocytic sarcoma associated with splenic marginal zone lymphoma: a case reportReportar como inadecuado

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Journal of Medical Case Reports

, 11:92

First Online: 05 April 2017Received: 10 October 2016Accepted: 27 February 2017DOI: 10.1186-s13256-017-1253-z

Cite this article as: Vaughn, J.L., Freitag, C.E., Hemminger, J.A. et al. J Med Case Reports 2017 11: 92. doi:10.1186-s13256-017-1253-z


BackgroundHistiocytic sarcoma is a rare histiocytic neoplasm of unknown etiology that constitutes less than 1% of hematologic malignancies. A few cases of histiocytic sarcoma harboring the BRAF mutation have been reported, but this finding has not been confirmed in all studies.

Case presentationWe report the case of a 63-year-old white woman with a history of splenic marginal zone lymphoma who presented with 2 weeks of right-sided neck swelling. Positron emission tomography revealed an intensely hypermetabolic and destructive soft tissue mass in her right skull base. A bone marrow biopsy was performed, which revealed an infiltrate of malignant cells characterized as large pleomorphic cells with frequent folded-irregular nuclei, variably prominent nucleoli, fine chromatin, and abundant amounts of eosinophilic cytoplasm. The malignant cells were positive for CD163, CD68 granular, lysozyme granular, CD4, and CD45 partial. Based on the biopsy findings, she was diagnosed as having histiocytic sarcoma. The malignant cells tested positive for the BRAF protein using immunohistochemistry. Before treatment of her histiocytic sarcoma could be initiated, she developed disseminated intravascular coagulation and acute hypoxemic respiratory failure secondary to non-cardiogenic pulmonary edema. She decided to pursue comfort care and died in our hospital 2 weeks following admission.

ConclusionsOur case illustrates the aggressive nature of histiocytic sarcoma, and provides rare evidence that histiocytic sarcoma associated with indolent lymphomas may harbor the BRAF mutation. Further research is needed to clarify the role of targeted therapies such as vemurafenib in the treatment of patients with this disorder.

KeywordsHistiocytic sarcoma Marginal zone B-cell lymphoma Proto-oncogene proteins B-raf Immunohistochemistry AbbreviationsHSHistiocytic sarcoma

PETPositron emission tomography

SMZLSplenic marginal zone lymphoma

SUVStandardized uptake value

Autor: John L. Vaughn - C. Eric Freitag - Jessica A. Hemminger - Jeffrey A. Jones


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