Pilocytic astrocytoma presenting as primary diffuse leptomeningeal gliomatosis: report of a unique case and review of the literature.
We describe a 25-year-old male patient with primary diffuse leptomeningeal gliomatosis (PDLG) presenting with gait ataxia, positive Lhermitte's sign, double vision, and right abducens nerve palsy. Spinal magnetic resonance imaging showed extended intradural, extramedullary, contrast-enhancing masses with compression of the myelon. Spinal leptomeningeal biopsy revealed a pilocytic astrocytoma WHO grade I. Despite chemotherapy with vincristin and carboplatin, the patient died 2 months after admission. A thorough autopsy showed no evidence for primary neoplasms in brain, spine and optic nerve. Sequence analysis of tumor protein 53 gene (TP53) revealed a missense mutation in exon 5, and expression of phosphatase and tensin homolog (mutated in multiple advanced cancers 1) (PTEN) protein was not detected, which may have contributed to astrocytoma development. To our knowledge, this is the first definitive case of pilocytic astrocytoma presenting as PDLG.
Bohner
Georg
G
Department of Radiology, Neuroradiology Section, Charité Medical Center, 13344, Berlin, Germany.
Masuhr
Florian
F
Distl
Roland
R
Katchanov
Juri
J
Klingebiel
Randolf
R
Zschenderlein
Rolf
R
von Deimling
Andreas
A
van Landeghem
Frank K H
FK
D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001254:Astrocytoma / Q000473:pathology* / Q000503:physiopathology; D014408:Biomarkers, Tumor / Q000235:genetics; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008577:Meningeal Neoplasms / Q000473:pathology* / Q000503:physiopathology; D008578:Meninges / Q000473:pathology*; D009154:Mutation / Q000235:genetics; D018302:Neoplasms, Neuroepithelial / Q000473:pathology* / Q000503:physiopathology; D009382:Neoplasms, Unknown Primary / Q000473:pathology* / Q000503:physiopathology; D013116:Spinal Cord / Q000473:pathology / Q000503:physiopathology; D013117:Spinal Cord Compression / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D013346:Subarachnoid Space / Q000473:pathology* / Q000503:physiopathology; D016159:Tumor Suppressor Protein p53 / Q000235:genetics
D014408:Biomarkers, Tumor; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53