title: Intracranial atypical teratoid/rhabdoid tumor presenting as an axillary mass: a case report and review of literature.
abstract: Atypical teratoid/rhabdoid tumor (AT/RT) is an uncommon, high-grade pediatric malignancy of the central nervous system (CNS) that rarely metastasizes outside the CNS (Chang stage M4). We describe a child with the sole metastasis of an AT/RT to an axillary lymph node and no other site of extra-CNS disease at presentation. The tumor included areas of rhabdoid cells and failed to express the SMARCB1 gene product (INI1). The metastatic site in this patient is unusual for 3 reasons: (1) it is anatomically unexpected for a CNS tumor, (2) no other extra-CNS metastasis or primary tumor outside the CNS was found, and (3) no cardiac septal defect or vascular anomaly was identified. This site as the presenting lesion and sole metastasis of an intracranial AT/RT has not been previously reported. We attempt to explain this phenomenon.
authors.affiliation: 1   Department of Pathology, University of Manitoba, Winnipeg, MB, Canada.
authors.forename: Jonathan W
authors.initials: JW
authors.lastname: Bush
authors.forename: Bj
authors.initials: B
authors.lastname: Hancock
authors.forename: Sara J
authors.initials: SJ
authors.lastname: Israels
authors.forename: David W
authors.initials: DW
authors.lastname: Ellison
authors.forename: Camelia
authors.initials: C
authors.lastname: Stefanovici
authors.forename: Sherry
authors.initials: S
authors.lastname: Krawitz
mesh_terms: D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009364:Neoplasm Recurrence, Local / Q000175:diagnosis / Q000473:pathology* / Q000628:therapy; D018335:Rhabdoid Tumor / Q000175:diagnosis / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D000071796:SMARCB1 Protein; D013724:Teratoma / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D014157:Transcription Factors / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors
keywords: atypical teratoid rhabdoid tumor; metastasis