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

The authors declare no conflicts of interest. Supplementary Figure 1: Histopathological and immunohistochemical features of intracranial lesion tissue. (A) Foamy histiocytes are seen (haematoxylin and eosin, original magnification×200). (B) Foamy histiocytes are positive for CD68 (×200). (C) Histiocytes are negative for CD1a (×200). (D) Histiocytes are negative for Langerin (×200). Suplementary Figure 2: 18F-FDG-PET/CT images at initial diagnosis. (A-C) PET/CT scan shows multiple metabolically active lesions in the bilateral cerebellar hemispheres, sellar region, and pineal region (green circles). (D-F) PET/CT scan demonstrates metabolically active abnormal bone lesions involving the bilateral pelvic bones, femurs, and multiple bones of the feet (green and blue circles). Supplementary Figure 3: 18F-FDG-PET/CT images after dabrafenib treatment. (A-C) PET/CT scan shows complete normalization of metabolic activity in the CNS lesions after 15 months of dabrafenib treatment. (D-F) PET/CT scan demonstrates metabolic normalization in the bone lesions after 15 months of dabrafenib treatment. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

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Publication Details

Journal
Pediatric Blood & Cancer
Published
2026-03-13
DOI
https://doi.org/10.1002/1545-5017.70188
Primary Topic
Histiocytic Disorders and Treatments
Type
article
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article

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

Tianbin Song, Jing Ni, Ju Tang, Yueshan PIAO et al.
Pediatric Blood & Cancer
Histiocytic Disorders and Treatments
article

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

Tianbin Song, Jing Ni, Ju Tang, Yueshan PIAO, Wanling Sun, Zhilian Zhao, Xiaoli Chang, Fang Fang, Yu Liu
article en

Abstract

The authors declare no conflicts of interest. Supplementary Figure 1: Histopathological and immunohistochemical features of intracranial lesion tissue. (A) Foamy histiocytes are seen (haematoxylin and eosin, original magnification×200). (B) Foamy histiocytes are positive for CD68 (×200). (C) Histiocytes are negative for CD1a (×200). (D) Histiocytes are negative for Langerin (×200). Suplementary Figure 2: 18F-FDG-PET/CT images at initial diagnosis. (A-C) PET/CT scan shows multiple metabolically active lesions in the bilateral cerebellar hemispheres, sellar region, and pineal region (green circles). (D-F) PET/CT scan demonstrates metabolically active abnormal bone lesions involving the bilateral pelvic bones, femurs, and multiple bones of the feet (green and blue circles). Supplementary Figure 3: 18F-FDG-PET/CT images after dabrafenib treatment. (A-C) PET/CT scan shows complete normalization of metabolic activity in the CNS lesions after 15 months of dabrafenib treatment. (D-F) PET/CT scan demonstrates metabolic normalization in the bone lesions after 15 months of dabrafenib treatment. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Pediatric Blood & Cancer
Capital Medical University (CN), Xuan Wu Hospital of the Capital Medical University (CN)
Good health and well-being
Openalex Percentile: Top 22%
Histiocytic Disorders and Treatments
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