Atypical teratoid rhabdoid tumor pathophysiology
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]
Overview
Pathogenesis
- Atypical teratoid rhabdoid tumor is a primitive neuroectodermal tumor (PNET). The tumor cells are derived from the neuroectoderm, but have not developed and differentiated in the way a normal neuron would, and so the cells appear "primitive".
- Atypical teratoid rhabdoid tumor was until relatively recently classed as medulloblastoma, although both are clinically and histologically different.
Genetics
- Gene involved in the pathogenesis of atypical teratoid rhomboid tumor include SMARCB1 (hSNF5/INI-1), a tumor suppressor gene.[1]
- Atypical teratoid rhabdoid tumor is characterized by loss of the long arm of chromosome 22, which results in loss of the hSNF5/INI-1 gene.
- INI1, a member of the SWI/SNF chromatin remodeling complex, is important in maintenance of the mitotic spindle and cell cycle control.
Associated Conditions
- Atypical teratoid rhabdoid tumor may be associated with rhabdoid predisposition syndrome.[2]
Gross Pathology
- Common intracranial sites associated with atypical teratoid rhabdoid tumor include:[3]
| Infratentorial | Supratentorial |
|---|---|
Mircoscopic Pathology
- On microscopic histopathological analysis, atypical teratoid rhabdoid tumor is characterized by rhabdoid tumor cells and varying amounts of small undifferentiated primitive neuroectodermal tumor (PNET)-like, mesenchymally, and/or epithelially differentiated tumor cells.[2]
- According to the WHO classification of tumors of the central nervous system, atypical teratoid rhabdoid tumor is classified into a WHO grade IV tumor.
Immunohistochemistry
- Atypical teratoid rhabdoid tumor is demonstrated by positivity to tumor markers such as:[4][5]
- Epithelial membrane antigen
- Vimentin
- Smooth muscle actin
- GFAP
- Cytokeratin
- Neurofilament
- Desmin
References
- ↑ Ginn, Kevin F.; Gajjar, Amar (2012). "Atypical Teratoid Rhabdoid Tumor: Current Therapy and Future Directions". Frontiers in Oncology. 2. doi:10.3389/fonc.2012.00114. ISSN 2234-943X.
- ↑ 2.0 2.1 Slavc, Irene; Chocholous, Monika; Leiss, Ulrike; Haberler, Christine; Peyrl, Andreas; Azizi, Amedeo A.; Dieckmann, Karin; Woehrer, Adelheid; Peters, Christina; Widhalm, Georg; Dorfer, Christian; Czech, Thomas (2014). "Atypical teratoid rhabdoid tumor: improved long-term survival with an intensive multimodal therapy and delayed radiotherapy. The Medical University of Vienna Experience 1992-2012". Cancer Medicine. 3 (1): 91–100. doi:10.1002/cam4.161. ISSN 2045-7634.
- ↑ Location of Atypical teratoid/rhabdoid tumour. Dr Bruno Di Muzio and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/atypical-teratoidrhabdoid-tumour. Accessed on December 14, 2015
- ↑ Markers of Atypical teratoid/rhabdoid tumour. Dr Bruno Di Muzio and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/atypical-teratoidrhabdoid-tumour. Accessed on December 14, 2015
- ↑ Meyers SP, Khademian ZP, Biegel JA, Chuang SH, Korones DN, Zimmerman RA (2006). "Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes". AJNR Am J Neuroradiol. 27 (5): 962–71. PMID 16687525.