Details

Autor(en) / Beteiligte

• Techavichit, Piti, MD
• Sosothikul, Darintr, MD
• Chaichana, Thiamjit, MSc
• Teerapakpinyo, Chinachote, PhD
• Thorner, Paul Scott, MD, PhD
• Shuangshoti, Shanop, MD

Titel

BRAF V600E Mutation in Pediatric Intracranial and Cranial Juvenile Xanthogranuloma

Ist Teil von

• Human pathology, 2017-11, Vol.69, p.118-122

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2017

Quelle

Elsevier ScienceDirect Journals

Beschreibungen/Notizen

• Juvenile xanthogranuloma (JXG) is a cutaneous form of non-Langerhans cell histiocytosis (LCH), 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 one 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 LCH and Erdheim-Chester disease, which also have a BRAF V600E mutation. Further study of BRAF status in a larger series of JXG is warranted.