BRAF V600E mutation and high expression of PD-L1 in Rosai-Dorfman disease: case report and review of the literature.

Autor: Moen FM; Department of Pathology, NYU Langone Health, NYU Grossman School of Medicine, New York, NY, USA. fmmoen@ucdavis.edu.; Department of Pathology and Laboratory Medicine, UC Davis, Davis, CA, USA. fmmoen@ucdavis.edu., Youssef MM; Department of Pathology, NYU Langone Health, NYU Grossman School of Medicine, New York, NY, USA., Shukla M; Department of Medicine, NYU Langone Health, NYU Grossman School of Medicine, New York, NY, USA., Nierodzik ML; Department of Medicine, NYU Langone Health, NYU Grossman School of Medicine, New York, NY, USA., Mayerhoefer ME; Department of Radiology, NYU Langone Health, NYU Grossman School of Medicine, New York, NY, USA., Park C; Department of Pathology, NYU Langone Health, NYU Grossman School of Medicine, New York, NY, USA.
Jazyk: angličtina
Zdroj: Journal of hematopathology [J Hematop] 2024 Dec; Vol. 17 (4), pp. 183-189. Date of Electronic Publication: 2024 Nov 27.
DOI: 10.1007/s12308-024-00611-9
Abstrakt: BRAF V600E mutations are frequently found in histiocytic/dendritic cell neoplasms such as Erdheim-Chester disease (ECD) and Langerhans cell histiocytosis (LCH), but few reports have also described BRAF mutations in Rosai-Dorfman disease (RDD), and even these cases may predominantly represent mixed histiocytosis. BRAF mutations have been studied in histiocytic/dendritic cell neoplasms and described to be associated with increased risk of relapse and long-term consequences, but few studies have examined BRAF V600E mutation in RDD, which is recognized as a neoplasm given the high frequency of MAPK pathway alterations. Here, we report a case of BRAF V600E-mutated RDD in a patient who presented with generalized lymphadenopathy. During our evaluation of this patient, we also found expression of PD-L1 in neoplastic histiocytes. During our review period, only few cases of RDD reported to harbor BRAF mutation or were evaluated for the expression of PDL1 by neoplastic cells. Given the potential challenges in distinguishing RDD from other histiocytic/dendritic cell neoplasms, including mixed histiocytosis with similar clinicopathological manifestations, we will discuss the current state of knowledge regarding the frequency and clinical impact of BRAF V600E in RDD, as well as the role of BRAF mutations in RDD pathogenesis. Distinction of BRAF V600E mutated histiocytic/dendritic cell neoplasms requires consideration of distinctive histopathological and immunophenotypic findings in appropriate clinical and radiologic setting. Given the increasing use of BRAF inhibitors as well as checkpoint blockade inhibitors to treat a number of cancers, we will discuss the clinical implications of the presence of BRAF V600E mutation and PD-L1 expression in RDD.
Competing Interests: Declarations. Ethical approval: For this type of study, formal consent is not required. Informed consent: For this type of study, informed consent is not required. Consent for publication: Consent for publication was obtained for every individual person’s data included in the study. Conflict of interest: The authors declare no competing interests.
(© 2024. The Author(s).)
Databáze: MEDLINE
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