title: Atypical teratoid/rhabdoid tumor arising in the setting of a pleomorphic xanthoastrocytoma.
abstract: We present a case of a 23-year-old man with a tumor containing glial and rhabdoid elements where the former had features of a pleomorphic xanthoastrocytoma (PXA) and the latter had the immunophenotype and genetic profile of an atypical rhabdoid/teratoid tumor. The patient presented with a short history of raised intracranial pressure with rapid deterioration in sensorium. He had a poor outcome despite surgery and radiotherapy. We report this case because of its unusual presentation in adulthood and its occurrence in association with a PXA. We speculate that the PXA was a quiescent tumor and that the secondary genetic alterations, including inactivation of the INI1 gene led to clinical progression.
authors: Division of Neuropathology, Department of Neurological Sciences, Christian Medical College, Vellore, India.
authors: Geeta
authors: G
authors: Chacko
authors: Ari G
authors: AG
authors: Chacko
authors: Christopher P
authors: CP
authors: Dunham
authors: Alexander R
authors: AR
authors: Judkins
authors: Jaclyn A
authors: JA
authors: Biegel
authors: Arie
authors: A
authors: Perry
mesh_terms: D000328:Adult; D001254:Astrocytoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D001932:Brain Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D017809:Fatal Outcome; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D017354:Point Mutation; D018335:Rhabdoid Tumor / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D000071796:SMARCB1 Protein; D013724:Teratoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D014157:Transcription Factors / Q000235:genetics
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors