A rare case of primary central nervous system histiocytic sarcoma harboring a novel ARHGAP45::BRAF fusion: a case report and literature review

Brain Tumor Pathol. 2024 Jan;41(1):18-29. doi: 10.1007/s10014-023-00471-8. Epub 2023 Dec 15.


Introduction: Patients with histiocytic sarcoma occurring in the central nervous system (CNS) are rare and have a very poor prognosis. The increased use of molecular diagnostic approaches in solid tumors has brought more opportunities for the diagnosis and treatment of central nervous system histiocytic sarcoma (CNSHS).

Case description: A 9-year-old girl was admitted to the hospital with pain in her head and neck, as well as vomiting. Imaging scans showed a prominent abnormality in the anterior falciform region, and histopathology revealed the presence of CD68 (+) and CD163 (+) cells, leading to a preliminary diagnosis of primary intracerebral CNSHS. Molecular profiling tests identified a new variant of ARHGAP45::BRAF fusion in this case, which has not been reported in any other tumor. The patient underwent surgical removal of the tumor and will require long-term monitoring.

Conclusion: The presence of the BRAF point mutation, predominantly BRAF p.V600E, has been documented in prior literature of CNSHS. This is the first case of pediatric histiocytic sarcoma in the anterior falciform region who has a unique ARHGAP45::BRAF fusion. The findings of our study indicate that a broader range of molecular assays should be employed in the diagnosis of CNSHS and opens up new possibilities for the treatment of the patient.

Keywords: BRAF fusion; Central nervous system; Histiocytic sarcoma; Next-generation sequencing.

Publication types

  • Review
  • Case Reports

MeSH terms

  • Brain Neoplasms* / diagnostic imaging
  • Brain Neoplasms* / genetics
  • Central Nervous System / pathology
  • Central Nervous System Neoplasms*
  • Child
  • Female
  • Histiocytic Sarcoma* / diagnosis
  • Histiocytic Sarcoma* / genetics
  • Histiocytic Sarcoma* / pathology
  • Humans
  • Proto-Oncogene Proteins B-raf / genetics


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