Synchronous pulmonary langerhans cell histiocytosis and multiple cutaneous reticulohistiocytomas with a common BRAF- V600E/D mutation driver Journal Article


Authors: Parra, O.; Georgantzoglou, N.; Green, D.; Wilson, J. G.; Linos, K.
Article Title: Synchronous pulmonary langerhans cell histiocytosis and multiple cutaneous reticulohistiocytomas with a common BRAF- V600E/D mutation driver
Abstract: Histiocytoses constitute a group of heterogeneous disorders characterized by involvement of variable organs by neoplastic macrophage or dendritic cells. They may affect both adults and children with a predilection to the skin, bone, lungs, lymph nodes, and CNS. The coexistence of different types of histiocytoses in the same patient is an extremely rare phenomenon. We describe a very rare case of co-occurring pulmonary Langerhans cell histiocytosis with multiple cutaneous reticulohistiocytomas with a common BRAF-V600E mutation as the driver genetic event in both the lung and skin lesions. The presence of a common BRAF-V600E mutation provides evidence of their clonal relation and contributes to our understanding in the pathogenesis of multiple, co-occurring histiocytic proliferations.
Keywords: histiocytosis; juvenile; braf; xanthogranuloma; lesions; pathways; braf mutations; langerhans; erdheim-chester disease; rosai-dorfman-disease; cooccurrence; reticulohistiocytoma
Journal Title: American Journal of Dermatopathology
Volume: 47
Issue: 1
ISSN: 0193-1091
Publisher: Lippincott Williams & Wilkins  
Date Published: 2025-01-01
Start Page: 30
End Page: 35
Language: English
ACCESSION: WOS:001376063800009
DOI: 10.1097/dad.0000000000002871
PROVIDER: wos
PUBMED: 39498902
Notes: Article -- Source: Wos
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  1. Konstantinos Linos
    55 Linos