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Pediatric Cancer, Volume 4 pp 207–214Cite as

Atypical Teratoid/Rhabdoid Tumor of the Pineal Region: Diagnosis

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Part of the book series: Pediatric Cancer ((PECA,volume 4))

Abstract

Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant embryonal tumor most commonly occurring in young children, with the highest incidence in the first 2 years of life. The ratio of supratentorial to infratentorial localization of this tumor is reported to be 1.4:1. Supratentorial AT/RTs are located mostly in the cerebral hemispheres and affect more predominantly older children and adults, in contrast to AT/RTs occurring in the posterior fossa. AT/RTs of the pineal region are much rarer, and there have been several single case reports of both children and adults in the litera­ture. There are no known symptoms or signs at presentation, or radiological features that are specific to AT/RTs of the pineal region, but a rapid progression of symptoms reflecting their aggressive biological behavior is common. The prognosis is dismal.

Histologically, AT/RTs are very cellular tumors and show marked regional hetero­geneity, with primitive neuroectodermal tumor (PNET)-like, rhabdoid, epithelial, and mesenchymal components in variable proportions. Immunohistochemically, AT/RTs are polyphenotypic with constant expression of vimentin and variable expression of epithelial membrane antigen, smooth muscle actin, glial fibrillary acidic protein, cytokeratins, synap­tophysin, and neurofilament protein. Loss of expression of INI1 is sensitive and specific marker for AT/RTs.

Histological differential diagnosis of AT/RTs of the pineal region includes so-called “malignant small blue cell tumors” (e.g., supratentorial PNETs, pineoblastoma), choroid plexus carcinoma, tumors with prominent rhabdoid features involving this region (e.g., rhabdoid meningioma, rhabdoid glioblastoma), and metastatic tumors. In addition to careful histological evaluation, a panel of immunohistochemical markers, including INI1, as well as detailed clinical information is crucial for this differential.

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Authors and Affiliations

  1. Department of Pathology and Genomic Medicine, The Methodist Hospital, Houston, TX, 77030, USA

    Hidehiro Takei

  2. Department of Pathology, University of Texas MD Anderson Cancer Center, Houston, TX, 77030, USA

    Lauren A. Langford

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  1. Hidehiro Takei
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  2. Lauren A. Langford
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Correspondence to Hidehiro Takei .

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  1. , Kean University, Room 213, Library building, Morris Avenue 1000, Union, 07083, New Jersey, USA

    M.A. Hayat

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Takei, H., Langford, L.A. (2013). Atypical Teratoid/Rhabdoid Tumor of the Pineal Region: Diagnosis. In: Hayat, M. (eds) Pediatric Cancer, Volume 4. Pediatric Cancer, vol 4. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-6591-7_20

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