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March 15, 2026Pediatric Blood & Cancer

A Rare Case of Pediatric BRAF V600E‐Mutated Erdheim–Chester Disease With Isolated Central Nervous System Onset: Diagnosis, Treatment, and Efficacy Evaluation

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Authors

JNJing NiFFFang FangXCXiaoli Chang

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Overview

Case report reveals effective treatment of CNS-onset Erdheim-Chester Disease with dabrafenib, suggesting benefits of targeted therapy.

Key Points

  • To present a rare pediatric case of BRAF V600E-mutated Erdheim-Chester disease with central nervous system onset and evaluate treatment efficacy.
  • Case report of pediatric patient with Erdheim-Chester disease and BRAF V600E mutation.
  • Diagnosis using histopathological features and 18F-FDG-PET/CT imaging.
  • Treatment with dabrafenib for 15 months, with ongoing evaluations.
  • Diagnosis confirmed by histopathological examination and immunohistochemistry showing CD68 positivity.
  • Dabrafenib treatment resulted in complete normalization of metabolic activity in CNS lesions after 15 months.
  • Bone lesions also showed metabolic normalization following treatment.

Cite This Study

Ni et al. (2026) studied this question.

synapsesocial.com/papers/69b606af83145bc643d1cdd9https://doi.org/10.1002/1545-5017.70188
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Case report: Targeted treatment strategies for Erdheim-Chester disease2024 · 6 citations
  2. 2From suspected brain malignancy to Erdheim-Chester disease: the role of PET imaging and bone marrow biopsy in diagnosis2026
  3. 39-year-old female presenting with l lower leg pain diagnosed with erdheim-chester disease (ECD)2025
  4. 4Targeted Therapy in Erdheim-Chester Disease: A Case Report and Review of the Literature2026 · 1 citations
  5. 5An effective treatment in Erdheim Chester disease: vemurafenib: a case report2023