BRAF V600E mutation in pediatric intracranial and cranial juvenile xanthogranuloma

Human Pathology
Piti TechavichitShanop Shuangshoti

Abstract

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.

Citations

May 10, 2020·Pediatric Blood & Cancer·Miho MaedaUNKNOWN Histiocytosis Study Group of the Japanese Society of Pediatric Hematology/Oncology
Nov 16, 2018·The British Journal of Dermatology·F BellinatoD Schena
Apr 3, 2018·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Alejandro A Gru, Louis P Dehner
Mar 2, 2019·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Jingkai SuXiaorui Su
Jun 9, 2020·International Journal of Pediatric Otorhinolaryngology·Giulia de SoccioAlessandro Corsi
Jul 1, 2020·Cold Spring Harbor Perspectives in Medicine·Rikhia ChakrabortyBenjamin H Durham
Jul 22, 2021·Journal of Pediatric Ophthalmology and Strabismus·Chengyue ZhangLi Li
Nov 20, 2021·The American Journal of Dermatopathology·Anurag SharmaWilma F Bergfeld

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