title: Intramedullary gangliogliomas: histopathologic and molecular features of 25 cases.
abstract: Gangliogliomas are uncommon glioneuronal tumors, which usually arise in the cerebral hemispheres and occasionally in the brain stem. Gangliogliomas occurring in the spinal cord are extremely rare. In this study, we analyzed the clinical, histopathologic, and molecular features of 25 spinal gangliogliomas. The cases included in our series affected mostly children and young adults (15 males and 10 females; mean age, 20 years; median age, 14 years; age range, 1-72 years) and were predominantly localized in the cervical and thoracic spine. From the clinical point of view (detailed follow-up available for 9 pediatric cases; mean follow-up: 2 years 10 months; range, 3 months to 5 years 10 months), most patients showed stable disease after subtotal resection. Radiotherapy was rarely used as adjuvant treatment. Histologically, gangliogliomas (WHO grade I) (21 cases) showed features largely similar to their supratentorial counterparts. Anaplastic gangliogliomas (World Health Organization grade III) (4 cases) showed features of anaplasia (including high cellularity and increased mitotic and proliferation activity). From a molecular point of view, only 2 tumors (2/19, 11%) harbored a BRAF(V600E) mutation. In conclusion, although spinal gangliogliomas display histologic and clinical features similar to their supratentorial counterparts, they show a relatively low frequency of BRAF(V600E) mutations, alteration otherwise common in hemispheric and brain stem gangliogliomas.
authors.affiliation: Institute of Neuropathology, University of Bonn Medical Center, 53105 Bonn, Germany. Electronic address: mgessimd@yahoo.com.
authors.forename: Marco
authors.initials: M
authors.lastname: Gessi
authors.affiliation: Institute of Neuropathology, University of Bonn Medical Center, 53105 Bonn, Germany.
authors.forename: Evelyn
authors.initials: E
authors.lastname: Dörner
authors.affiliation: Institute of Neuropathology, University of Bonn Medical Center, 53105 Bonn, Germany.
authors.forename: Verena
authors.initials: V
authors.lastname: Dreschmann
authors.affiliation: Department of Radiological Oncological and Anatomo-Pathological Sciences, University of Rome-"La Sapienza", 00164 Rome, Italy.
authors.forename: Manila
authors.initials: M
authors.lastname: Antonelli
authors.affiliation: Institute of Neuropathology, University of Bonn Medical Center, 53105 Bonn, Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Waha
authors.affiliation: Department of Radiological Oncological and Anatomo-Pathological Sciences, University of Rome-"La Sapienza", 00164 Rome, Italy; IRCCS Neuromed, 86077 Pozzilli (IS), Italy.
authors.forename: Felice
authors.initials: F
authors.lastname: Giangaspero
authors.affiliation: Department of Pediatric Oncology, Klinikum Augsburg, 86156 Augsburg, Germany.
authors.forename: Astrid
authors.initials: A
authors.lastname: Gnekow
authors.affiliation: Institute of Neuropathology, University of Bonn Medical Center, 53105 Bonn, Germany.
authors.forename: Torsten
authors.initials: T
authors.lastname: Pietsch
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D018303:Ganglioglioma / Q000737:chemistry / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality / Q000473:pathology / Q000601:surgery; D050939:Gene Fusion; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D018714:Radiotherapy, Adjuvant; D013125:Spinal Neoplasms / Q000737:chemistry / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality / Q000473:pathology / Q000601:surgery; D013997:Time Factors; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D014408:Biomarkers, Tumor; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: Anaplastic ganglioglioma; BRAF; BRAF(V600E); Ganglioglioma; Immunohistochemistry; Spinal cord