Synchronous Pulmonary Langerhans Cell Histiocytosis and Multiple Cutaneous Reticulohistiocytomas With a Common BRAF- V600E/D Mutation Driver

Am J Dermatopathol. 2025 Jan 1;47(1):30-35. doi: 10.1097/DAD.0000000000002871. Epub 2024 Nov 5.

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.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Histiocytosis, Langerhans-Cell* / genetics
  • Histiocytosis, Langerhans-Cell* / pathology
  • Histiocytosis, Non-Langerhans-Cell / genetics
  • Histiocytosis, Non-Langerhans-Cell / pathology
  • Humans
  • Male
  • Mutation*
  • Proto-Oncogene Proteins B-raf* / genetics
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology

Substances

  • Proto-Oncogene Proteins B-raf
  • BRAF protein, human