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Atypical Teratoid Rhabdoid Tumors

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Part of the Molecular Pathology Library book series (MPLB, volume 8)

Abstract

Atypical teratoid/rhabdoid tumors (AT/RTs) are highly aggressive and lethal tumors encountered primarily in the pediatric age group. These tumors are defined by mutations and deletions in the SMARCB1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1) gene (also referred to as SNF5/BAF47/INI1) or, in very rare cases, other genes related to the SWI/SNF chromatin remodeling complex. Histologically, these tumors are variable in their appearance and show a spectrum of features, including characteristic rhabdoid cells and immunohistochemical evidence of polyphenotypic differentiation. We discuss the clinical manifestations including epidemiology, neuroradiologic features, histopathology, differential diagnosis, and immunohistochemical studies that aid in the diagnosis of AT/RT. Emphasis is placed on the molecular genetic alterations encountered in this tumor, how detection of genetic alterations in SMARCB1 can be accomplished in the clinical laboratory using immunohistochemistry and molecular approaches, and how these alterations contribute to the elucidation of the pathogenesis of AT/RT. Finally, we outline the poor clinical prognosis borne by patients with AT/RT and discuss the current and potential new treatment regimens that could be used to treat these deadly tumors.

Keywords

CNS embryonal tumors Pediatric age group WHO grade IV Atypical teratoid/rhabdoid tumor SMARCB1/SNF5/BAF47/INI1 Histopathology Differential diagnosis Molecular diagnostics and therapeutics 

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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Department of PathologyUniversity of Michigan Medical SchoolMichiganUSA
  2. 2.Department of GeneticsAlbert Einstein College of MedicineBronxUSA
  3. 3.Department of Microbiology and ImmunologyAlbert Einstein College of MedicineBronxUSA
  4. 4.Department of Pathology and Laboratory MedicineChildren’s Hospital Los Angeles, Keck School of Medicine University of Southern CaliforniaLAUSA
  5. 5.Department of PathologyChildren’s Hospital Los Angeles, Keck School of Medicine University of Southern CaliforniaLAUSA
  6. 6.Department of PediatricsNYU Langone Medical CenterNew YorkUSA

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