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Infantile Central Nervous System Juvenile Xanthogranuloma With Somatic CSF1R Mutation Responsive to Imatinib Monotherapy.

Pediatric blood & cancer - 1 Oct 2026

Vazquez Sima, Etienne Kayla, Di Long, Martinez-Torres Valerie, Rosenberg Andrew, Gultekin Sakir H, Dhir Aditi, Gampel Bradley, McCrea Heather J

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42605749
DOI: 10.1002/1545-5017.70585

Genes

CSF1R

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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