Infantile Central Nervous System Juvenile Xanthogranuloma With Somatic CSF1R Mutation Responsive to Imatinib Monotherapy.
This report describes an infant with multifocal CNS juvenile xanthogranuloma harboring a somatic CSF1R mutation whose lesions resolved on imatinib monotherapy, with a sustained response after 3 years and no reported treatment interruptions or adverse events.
Open original publication →What the AI sees
This report describes an infant with multifocal CNS juvenile xanthogranuloma harboring a somatic CSF1R mutation whose lesions resolved on imatinib monotherapy, with a sustained response after 3 years and no reported treatment interruptions or adverse events.
Research significance
The reported response provides case-level evidence that imatinib can be active in CSF1R-mutated CNS JXG; it remains an inference, requiring functional and clinical validation, that the CSF1R alteration drove the response or can serve as a general treatment-selection biomarker.
Source abstract
Juvenile xanthogranuloma (JXG) of the central nervous system (CNS) is a rare non-Langerhans cell histiocytosis. CSF1R mutations have been reported for peripheral JXG, but not in CNS JXG. A 3-month-old male presented with fever, lymphadenopathy, and macrocephaly with bulging fontanelles. Imaging demonstrated multiple dural-based masses causing obstructive hydrocephalus. The patient underwent right frontal endoscopic third ventriculostomy, choroid plexus cauterization, and craniotomy for resection and tissue diagnosis. Pathology was consistent with JXG, and NGS identified a somatic CSF1R mutation. Liquid imatinib monotherapy led to resolution of lesions and continued treatment response after 3 years without adverse events or drug interruptions.