Disseminated primary diffuse leptomeningeal gliomatosis: a case report with liquid based and conventional smear cytology

BACKGROUND: Primary diffuse leptomeningeal gliomatosis is a rare neoplasm confined to the meninges without evidence of primary tumor in the brain or spinal cord parenchyma. Cerebrospinal fluid diversion via ventriculoperitoneal shunt may be used as a therapeutic modality. Herein, we describe the first report of cytologic findings of a case of this neoplasm with shunt-related peritoneal metastasis. CASE PRESENTATION: A 19-year-old male presented with a 6-month history of severe headaches. He had bilateral papilledema on physical exam. Cerebrospinal fluid examination was negative. Four months later a ventriculoperitoneal shunt was placed. Shortly thereafter, he was diagnosed with primary diffuse leptomeningeal gliomatosis based on the biopsy of an intradural extramedullary lesion adjacent to the lumbar spinal cord at a referral cancer center. The histology featured an infiltrating growth pattern of pleomorphic astrocytes with diffuse positivity for glial fibrillary acidic protein. A couple of months later he presented at our institution with ascites and an anterior peritoneal mass. Repeat cerebrospinal fluid cytology and fine needle aspiration of the mass confirmed disseminated gliomatosis. Cytologic characteristics included clusters of anaplastic cells of variable size, high nuclear to cytoplasm ratio and scant to moderate cytoplasm. Occasional single bizarre multinucleated cells were seen with eccentric "partial wreath-like" nuclei, clumped chromatin and prominent nucleoli. Patient expired 13 months after initial presentation. CONCLUSION: Disseminated primary diffuse leptomeningeal gliomatosis should be considered in the differential diagnosis of chronic aseptic meningitis and in the presence of a peritoneal tumor in patients with ventriculoperitoneal shunts. Immunocytochemistry may be of diagnostic value.