Central nervous system juvenile xanthogranuloma with malignant transformation

Pediatr Blood Cancer. 2008 Apr;50(4):927-30. doi: 10.1002/pbc.21252.

Abstract

Juvenile xanthogranuloma (JXG) is a rare histiocytic disorder that typically manifests in the skin. Here, we describe a patient with JXG diffusely involving the central nervous system (CNS), whose disease responded to therapy but subsequently underwent dissemination to the peritoneum and bone marrow. Repeat biopsy at dissemination revealed pleomorphic histiocytes with tetraploidy, suggesting evolution to a clonal histiocytic neoplasm. Despite further chemotherapy, the patient died of disease progression. This case highlights the clinical and pathological heterogeneity of JXG and the difficulty of treating multi-focal CNS disease.

Publication types

  • Case Reports

MeSH terms

  • Anti-Inflammatory Agents / therapeutic use
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Brain Diseases / pathology
  • Brain Neoplasms / pathology
  • Brain Neoplasms / physiopathology*
  • Brain Neoplasms / therapy*
  • Child
  • Cladribine / therapeutic use
  • Dexamethasone / therapeutic use
  • Diagnosis, Differential
  • Disease Progression
  • Fatal Outcome
  • Histiocytic Sarcoma / pathology*
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Magnetic Resonance Imaging
  • Male
  • Pseudotumor Cerebri / pathology
  • Radiotherapy
  • Xanthogranuloma, Juvenile / pathology
  • Xanthogranuloma, Juvenile / physiopathology*
  • Xanthogranuloma, Juvenile / therapy*

Substances

  • Anti-Inflammatory Agents
  • Cladribine
  • Dexamethasone