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
Atypical teratoid rhabdoid tumor is comprised of rhabdoid tumor cells and varying amounts of small undifferentiated primitive neuroectodermal tumor (PNET)-like, mesenchymally, and/or epithelially differentiated tumor cells. Gene involved in the pathogenesis of atypical teratoid rhomboid tumor include SMARCB1 (hSNF5/INI-1), a tumor suppressor gene.[1] Atypical teratoid rhabdoid tumor may be associated with rhabdoid predisposition syndrome.[2] On gross pathology, atypical teratoid rhabdoid tumor is characterized by an encapsulated, grayish, friable mass which is moderately vascular.[3]
- Common intracranial sites associated with atypical teratoid rhabdoid tumor include:[4] On microscopic histopathological analysis, atypical teratoid rhabdoid tumor is characterized by round blue tumor cells of high cellularity composed of atypical cells with eccentric nuclei, small nucleoli, and abundant amounts of eosinophilic cytoplasm with frequent mitotic figures.[2] Atypical teratoid rhabdoid tumor is demonstrated by positivity to tumor markers such as epithelial membrane antigen, vimentin, and smooth muscle actin.[5][6]
Pathogenesis
- Atypical teratoid rhabdoid tumor is comprised of rhabdoid tumor cells and varying amounts of small undifferentiated primitive neuroectodermal tumor (PNET)-like, mesenchymally, and/or epithelially differentiated tumor cells.
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
- On gross pathology, atypical teratoid rhabdoid tumor is characterized by an encapsulated, grayish, friable mass which is moderately vascular.[3]
- Common intracranial sites associated with atypical teratoid rhabdoid tumor include:[4]
| Infratentorial | Supratentorial |
|---|---|
Mircoscopic Pathology
- On microscopic histopathological analysis, atypical teratoid rhabdoid tumor is characterized by round blue tumor cells of high cellularity composed of atypical cells with eccentric nuclei, small nucleoli, and abundant amounts of eosinophilic cytoplasm with frequent mitotic figures.[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:[5][6]
- Epithelial membrane antigen
- Vimentin
- Smooth muscle actin
- GFAP
- Cytokeratin
- Neurofilament
- Desmin
References
- ↑ 1.0 1.1 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 2.2 2.3 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.
- ↑ 3.0 3.1 Chan KH, Mohammed Haspani MS, Tan YC, Kassim F (2011). "A case report of atypical teratoid/rhabdoid tumour in a 9-year-old girl". Malays J Med Sci. 18 (3): 82–6. PMC 3216225. PMID 22135607.
- ↑ 4.0 4.1 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
- ↑ 5.0 5.1 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
- ↑ 6.0 6.1 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.