title: Disseminated oligodendroglial-like leptomeningeal tumor of childhood: a distinctive clinicopathologic entity.
abstract: Rare, generally pediatric oligodendroglioma-like neoplasms with extensive leptomeningeal dissemination have been interpreted variably as glial, oligodendroglial or glioneuronal. The clinicopathologic features have not been fully characterized. We studied 36 patients, 12 females and 24 males with a median age of 5 years (range 5 months-46 years). MRI demonstrated leptomeningeal enhancement, frequently with cystic or nodular T2 hyperintense lesions within the spinal cord/brain along the subpial surface. A discrete intraparenchymal lesion, usually in the spinal cord, was found in 25 (of 31) (81 %). Tumors contained oligodendroglioma-like cells with low-mitotic activity (median 0 per 10 high power fields, range 0-4), and rare ganglion/ganglioid cells in 6 cases (17 %). Tumors were mostly low-grade, with anaplastic progression in 8 (22 %). Immunohistochemistry demonstrated strong reactivity for OLIG2 (7 of 9) (78 %), and moderate/strong S100 (11 of 12) (92 %), GFAP (12 of 31) (39 %) and synaptophysin (19 of 27) (70 %). NeuN, EMA, and mutant IDH1 (R132H) protein were negative. Median MIB1 labeling index was 1.5 % (range <1-30 %). FISH (n = 13) or SNP array (n = 2) demonstrated 1p loss/intact 19q in 8 (53 %), 1p19q co-deletion in 3 (20 %), and no 1p or 19q loss in 4 (27 %). Clinical follow-up (n = 24) generally showed periods of stability or slow progression, but a subset of tumors progressed to anaplasia and behaved more aggressively. Nine patients (38 %) died 3 months-21 years after diagnosis (median total follow-up 5 years). We report a series of a neoplasm with distinct clinicopathologic and molecular features. Although most progress slowly, a significant fraction develop aggressive features.
authors.affiliation: Department of Pathology, Division of Neuropathology, Johns Hopkins Hospital, Johns Hopkins University, Baltimore, MD, 21231, USA. frodrig4@jhmi.edu
authors.forename: Fausto J
authors.initials: FJ
authors.lastname: Rodriguez
authors.forename: Arie
authors.initials: A
authors.lastname: Perry
authors.forename: Marc K
authors.initials: MK
authors.lastname: Rosenblum
authors.forename: Sherry
authors.initials: S
authors.lastname: Krawitz
authors.forename: Kenneth J
authors.initials: KJ
authors.lastname: Cohen
authors.forename: Doris
authors.initials: D
authors.lastname: Lin
authors.forename: Stacy
authors.initials: S
authors.lastname: Mosier
authors.forename: Ming-Tseh
authors.initials: MT
authors.lastname: Lin
authors.forename: Charles G
authors.initials: CG
authors.lastname: Eberhart
authors.forename: Peter C
authors.initials: PC
authors.lastname: Burger
mesh_terms: D000293:Adolescent; D000328:Adult; D051792:Basic Helix-Loop-Helix Proteins / Q000378:metabolism; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000378:metabolism; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008577:Meningeal Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000378:metabolism; D000076104:Oligodendrocyte Transcription Factor 2; D009837:Oligodendroglioma / Q000235:genetics / Q000401:mortality / Q000473:pathology*; D009418:S100 Proteins / Q000378:metabolism; D013116:Spinal Cord / Q000473:pathology; D016019:Survival Analysis; D016708:Synaptophysin / Q000378:metabolism; D055815:Young Adult
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D005904:Glial Fibrillary Acidic Protein; D009419:Nerve Tissue Proteins; D000076104:Oligodendrocyte Transcription Factor 2; D009418:S100 Proteins; D016708:Synaptophysin; C405708:OLIG2 protein, human; C569014:SYP protein, human