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Human pathology v.69, 2017년, pp.118 - 122   SCI SCIE
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BRAF V600E mutation in pediatric intracranial and cranial juvenile xanthogranuloma

Techavichit, Piti    (Division of Hematology and Oncology, Department of Pediatric, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand   ); Sosothikul, Darintr    (Division of Hematology and Oncology, Department of Pediatric, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand   ); Chaichana, Thiamjit    (Department of Pathology, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand   ); Teerapakpinyo, Chinachote    (Chulolongkorn GenePRO Center, Research Affairs, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand   ); Thorner, Paul Scott    (Department of Pathology, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand   ); Shuangshoti, Shanop    (Department of Pathology, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand  );
  • 초록  

    Summary Juvenile xanthogranuloma (JXG) is a cutaneous form of non-Langerhans cell histiocytosis, primarily affecting children. The lesion is presumed to originate from either macrophages or dermal dendritic cells. JXG can rarely present as an isolated intracranial lesion and, in contrast to the dismal outcome of patients with systemic disease, cranial JXG has been shown to carry a more favorable prognosis. Here, we report for the first time 3 pediatric cases of JXG with a BRAF V600E mutation, 2 with intracranial lesions and 1 with cranial lesions. Although these intracranial/cranial lesions have been referred to as JXG, they likely differ from cutaneous JXG in both the clinical features and BRAF status. It may be more appropriate to classify intracranial/cranial JXG in the same group as Langerhans cell histiocytosis and Erdheim-Chester disease, which also have a BRAF V600E mutation. Further study of BRAF status in a larger series of JXG is warranted. Highlights Juvenile xanthogranuloma is a cutaneous form of non-Langerhans cell histiocytosis. The BRAF gene is known to be involved in histiocytic disorders. BRAF V600E mutation in pediatric juvenile xanthogranuloma is reported.


  • 주제어

    Juvenile xanthogranuloma .   Histiocytosis .   Intracranial .   BRAF .   Erdheim-Chester.  

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