title: Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature.
abstract: Atypical teratoid/rhabdoid tumors (AT/RTs) are rare, malignant brain tumors which occur almost exclusively in infants and young children. There have been only 17 cases of AT/RT in adults reported in the medical literature and the rarity of this tumor makes the diagnosis in adults difficult. We describe a case of an AT/RT of the spinal cord in an adult. A 43-year old woman presented with neck and left upper extremity pain. An MRI demonstrated a mass lesion in the dorsal spinal cord extending from C4 to C6. The patient underwent a C3 through C7 laminectomy. In consultation with senior pathologists at other institutions, the lesion was initially diagnosed as a rhabdoid meningioma. Molecular genetic studies revealed monosomy 22 and loss of expression of the INI1 gene in 22q11.2. Subsequently, immunohistochemical studies revealed the absence of INI1 gene expression in the malignant cells, supporting the diagnosis of AT/RT. The patient underwent three additional surgical procedures for recurrent disease throughout the neuraxis secondary to leptomeningeal spread of the tumor. Despite aggressive surgical resection, adjuvant chemotherapy and radiation therapy, the patient succumbed to the disease two and a half years after her initial presentation. An unrestricted autopsy was performed. To our knowledge, this is the first case of a spinal atypical teratoid/rhabdoid tumor in an adult fully documented with molecular, immunohistochemical, cytogenetic and autopsy findings.
authors: Department of Pathology, Dartmouth-Hitchcock Medical Center, One Medical Center Drive, Lebanon, NH 03756, USA.
authors: Elena L
authors: EL
authors: Zarovnaya
authors: Henry F
authors: HF
authors: Pallatroni
authors: Eugen B
authors: EB
authors: Hug
authors: Perry A
authors: PA
authors: Ball
authors: Laurence D
authors: LD
authors: Cromwell
authors: J Marc
authors: JM
authors: Pipas
authors: Camilo E
authors: CE
authors: Fadul
authors: Louise P
authors: LP
authors: Meyer
authors: Jonathan P
authors: JP
authors: Park
authors: Jaclyn A
authors: JA
authors: Biegel
authors: Arie
authors: A
authors: Perry
authors: C Harker
authors: CH
authors: Rhodes
mesh_terms: D000328:Adult; D002574:Cervical Vertebrae; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics* / Q000378:metabolism; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D009006:Monosomy / Q000175:diagnosis / Q000235:genetics; D009364:Neoplasm Recurrence, Local / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D018335:Rhabdoid Tumor / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D000071796:SMARCB1 Protein; D013120:Spinal Cord Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D013724:Teratoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors