Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature.

Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature. Research Abstract Details 

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Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature. Abstract Text:

Elena L Zarovnaya,Henry F Pallatroni,Eugen B Hug,Perry A Ball,Laurence D Cromwell,J Marc Pipas,Camilo E Fadul,Louise P Meyer,Jonathan P Park,Jaclyn A Biegel,Arie Perry,C Harker Rhodes,

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.

Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature. Publishing Authors By Initials

EL Zarovnaya,HF Pallatroni,EB Hug,PA Ball,LD Cromwell,JM Pipas,CE Fadul,LP Meyer,JP Park,JA Biegel,A Perry,CH Rhodes,

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Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature. Journal Published:

PUBLICATION TYPE: Review

Journal: Journal of neuro-oncology

VOLUME: 84

Page Numbers: 49-55

Journal Abbreviation: J. Neurooncol.

ISSN: 0167-594X

DAY: 22

MONTH: 03

YEAR: 2007

Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature. Information

Number of References: 34

LANGUAGE: eng

NlmUniqueID: 8309335

Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature. Keywords Mesh Terms:

KEYWORDS: Transcription Factors

MESH TERMS: metabolism

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Substance Name: Transcription Factors

Registry Number: 0

Grant and Affiliation Information for Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature.

AFFILIATION: Department of Pathology, Dartmouth-Hitchcock Medical Center, One Medical Center Drive, Lebanon, NH 03756, USA.

Country: Netherlands

AGENCY: United States NCI

GRANT: CA46274

ACRONYM: CA

MEDLINETA: J Neurooncol

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