title: Anaplastic PXA in adults: case series with clinicopathologic and molecular features.
abstract: Pleomorphic xanthoastrocytomas with anaplastic features (PXA-As) are rare tumors about which little is known regarding clinicopathologic and molecular features. Several studies have identified BRAF V600E mutations in PXA-As, but the percentage with mutation may differ between adult and pediatric examples, and limited information exists about immunohistochemistry for isocitrate dehydrogenase 1 (IDH1). Ten cases of adult PXA-As seen at our institution since 2000 were assessed for BRAF V600E mutation by polymerase chain reaction testing (PCR) and IDH1 by immunohistochemistry. Patients ranged in age from 18-68 years; four PXA-As affected temporal lobe and two were cystic. Four patients underwent gross total resection and 9 of 10 patients received cranial irradiation and/or adjuvant chemotherapy. Five survived less than 5 years, although 2 of 5 patients died from non-tumor causes. Four long-term survivors are alive at 7.5, 9.8, 11.4, and 11.9 years post-diagnosis. Two of four long term survivors had BRAF V600E mutation: patients were ages 18 and 28 years. A 48-year-old male without BRAF mutation survives at 9.8 years, even with thalamic location; conversely a 68-year-old female with temporal lobe tumor and BRAF mutation survived 1.9 years after diagnosis. All tumors were IDH1 immunonegative. This case series details clinicopathologic features of a subset of rare PXA-As in adults. BRAF V600E mutation was identified in 50 % of these cases.
authors.affiliation: Department of Pathology, The University of Colorado Health Sciences Center, 12605 E. 16th Avenue, Room 3026, MS F768, Aurora, CO 80045, USA.
authors.forename: Yao
authors.initials: Y
authors.lastname: Schmidt
authors.forename: B K
authors.initials: BK
authors.lastname: Kleinschmidt-DeMasters
authors.forename: Dara L
authors.initials: DL
authors.lastname: Aisner
authors.forename: Kevin O
authors.initials: KO
authors.lastname: Lillehei
authors.forename: Denise
authors.initials: D
authors.lastname: Damek
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001254:Astrocytoma / Q000235:genetics / Q000401:mortality / Q000473:pathology*; D001932:Brain Neoplasms / Q000235:genetics / Q000401:mortality / Q000473:pathology*; D002277:Carcinoma; D005260:Female; D005500:Follow-Up Studies; D049452:Green Fluorescent Proteins / Q000378:metabolism; D006801:Humans; D007124:Immunoenzyme Techniques; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009364:Neoplasm Recurrence, Local / Q000235:genetics / Q000401:mortality / Q000473:pathology*; D016133:Polymerase Chain Reaction; D011379:Prognosis; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D015996:Survival Rate; D055815:Young Adult
chemical_list: D049452:Green Fluorescent Proteins; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf