Atypical teratoid rhabdoid tumor overview

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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 an uncommon WHO Grade IV tumor, which in the vast majority of cases occurs in young children less than two years of age. It most frequently presents as a posterior fossa mass. 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] 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.[4][5] Atypical teratoid rhabdoid tumor must be differentiated from medulloblastoma, pineoblastoma, spinal primitive neuroectodermal tumors, and other pineal gland masses.[6] Atypical teratoid rhabdoid tumor comprises approximately 1–2% of all pediatric brain tumors; however, in patients less than 3 years of age, this tumor accounts for up to 20% of cases.[1] The incidence of atypical teratoid rhabdoid tumor is approximately 0.3 per 100,000 individuals in the United States.[7] Males are more commonly affected with atypical teratoid rhabdoid tumor than females. The male to female ratio is approximately 1.9 to 1.[1] If left untreated, patients with atypical teratoid rhabdoid tumor may progress to develop obstructive hydrocephalus, leptomeningeal dissemination, and ultimately death.[3] Common complications of atypical teratoid rhabdoid tumor include obstructive hydrocephalus, leptomeningeal dissemination, and recurrence.[3] Prognosis is generally poor, and the 5-year overall survival rate of patients with atypical teratoid rhabdoid tumor is 29 ± 9%.[1] Symptoms of atypical teratoid rhabdoid tumor include headache, vomiting, increased head size in infant, trouble with balance and coordination, and weight loss. Common physical examination findings of atypical teratoid rhabdoid tumor include papilledema, ataxia, upper motor neuron lesion, and hemiparesis.[3] On MRI, atypical teratoid rhabdoid tumor is characterized by iso- to slight hyperintensity on T1-weighted imaging and hyperintensity on T2-weighted imaging. There is heterogenous enhancement on contrast administration.[8] The predominant therapy for atypical teratoid rhabdoid tumor is surgical resection. Adjunctive chemotherapy and radiation is required.[2][9]

Historical Perspective

Atypical teratoid rhabdoid tumor was first reported by Bonnin et al., in 1984.[1] It was incorporated as a separate entity into the WHO classification of tumors of the nervous system, in 1993.

Classification

There is no classification system established for atypical teratoid rhabdoid tumor.[10]

Pathophysiology

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.[2] 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] 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.[4][5]

Causes

There are no established direct causes for atypical teratoid rhabdoid tumor. The development of atypical teratoid rhabdoid tumor is the result of multiple genetic mutations. Common genetic mutations involved in the development of atypical teratoid rhabdoid tumor can be found here.[1]

Differentiating Atypical Teratoid Rhabdoid Tumor from other Diseases

Atypical teratoid rhabdoid tumor must be differentiated from medulloblastoma, pineoblastoma, spinal primitive neuroectodermal tumors, and other pineal gland masses.[6]

Epidemiology and Demographics

Atypical teratoid rhabdoid tumor comprises approximately 1–2% of all pediatric brain tumors; however, in patients less than 3 years of age, this tumor accounts for up to 20% of cases.[1] The incidence of atypical teratoid rhabdoid tumor is approximately 0.3 per 100,000 individuals in the United States.[7] Atypical teratoid rhabdoid tumor is a rare disease that tends to affect the children population.[11][12] The median age at diagnosis is approximately 24-30 months.[2] Males are more commonly affected with atypical teratoid rhabdoid tumor than females. The male to female ratio is approximately 1.9 to 1.[1]

Risk Factors

There are no established risk factors for atypical teratoid rhabdoid tumor.

Screening

There is insufficient evidence to recommend routine screening for atypical teratoid rhabdoid tumor.

Natural History, Complications and Prognosis

If left untreated, patients with atypical teratoid rhabdoid tumor may progress to develop obstructive hydrocephalus, leptomeningeal dissemination, and ultimately death.[3] Common complications of atypical teratoid rhabdoid tumor include obstructive hydrocephalus, leptomeningeal dissemination, and recurrence.[3] Prognosis is generally poor, and the 5-year overall survival rate of patients with atypical teratoid rhabdoid tumor is 29 ± 9%.[1]

Diagnosis

Diagnostic Criteria

The diagnosis of atypical teratoid rhabdoid tumor is based on the current WHO classification of tumors of the central nervous system criteria, which include presence of rhabdoid tumor cells and/or divergent differentiation along epithelial, mesenchymal, neuronal, or glial lines in addition to the complete loss of SMARCB1 protein expression in tumor cell nuclei, but the expression retained in preexisting cells (e.g., endothelial cells).[2]

Staging

There is no established system for the staging of atypical teratoid rhabdoid tumor.

History and Symptoms

When evaluating a patient for atypical teratoid rhabdoid tumor, you should take a detailed history of the presenting symptom (onset, duration, and progression), other associated symptoms, and a thorough family and past medical history review. Other specific areas of focus when obtaining the history include the review of associated conditions such as rhabdoid predisposition syndrome.[2] Symptoms of atypical teratoid rhabdoid tumor include headache, vomiting, increased head size in infant, trouble with balance and coordination, and weight loss.[3][13][14]

Physical Examination

Common physical examination findings of atypical teratoid rhabdoid tumor include papilledema, ataxia, upper motor neuron lesion, and hemiparesis.[3]

Laboratory Findings

CSF analysis is done to detect any leptomeningeal dissemination with involvement of the cerebrospinal fluid. Large tumor cells, eccentricity of the nuclei, and prominent nucleoli are consistent findings.[15]

CT

Head CT scan is helpful in the diagnosis of atypical teratoid rhabdoid tumor. On head CT scan, atypical teratoid rhabdoid tumor is characterized by an isodense, calcified mass with heterogenous enhancement. There may be associated findings of obstructive hydrocephalus.[16]

MRI

Brain MRI is helpful in the diagnosis of atypical teratoid rhabdoid tumor. On MRI, atypical teratoid rhabdoid tumor is characterized by iso- to slight hyperintensity on T1-weighted imaging and hyperintensity on T2-weighted imaging. There is heterogenous enhancement on contrast administration.[8]

Ultrasound

Ultrasound may be performed to detect atypical teratoid rhabdoid tumor in other parts of the body, especially the kidneys.[17]

Other Imaging Findings

Other imaging studies for atypical teratoid rhabdoid tumor include magnetic resonance spectroscopy, which demonstrates elevated choline and N-Acetylaspartate.[8]

Other Diagnostic Studies

Other diagnostic studies for atypical teratoid rhabdoid tumor include biopsy (definitive diagnostic test), fluorescence in situ hybridization (abnormalities of chromosome 22q11.2), and immunohistochemistry (loss of INI-1 staining in the neoplastic cells).[18][13]

Treatment

Medical Therapy

The predominant therapy for atypical teratoid rhabdoid tumor is surgical resection. Adjunctive chemotherapy and radiation is required.[2][9]

Surgery

Surgery is the mainstay of treatment for atypical teratoid rhabdoid tumor.[1] Surgery plays a critical role in obtaining tissue to make an accurate diagnosis. Stem cell transplantation is indicated in very aggressive atypical teratoid rhabdoid tumors, to receive high doses of chemotherapy.[9]

Primary Prevention

There are no primary preventive measures available for atypical teratoid rhabdoid tumor.

References

  1. 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 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. 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 2.8 2.9 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. 3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 3.8 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. 4.0 4.1 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
  5. 5.0 5.1 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.
  6. 6.0 6.1 Differential diagnosis 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
  7. 7.0 7.1 Atypical teratoid rhabdoid tumor. Wikipedia 2015. https://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor. Accessed on December 10, 2015
  8. 8.0 8.1 8.2 MRI brain radiographic features 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 16, 2015
  9. 9.0 9.1 9.2 Treatment and care options of atypical teratoid rhabdoid tumor. Dana-Farber and Boston Children hospital cancer and blood disorder center 2015. http://www.danafarberbostonchildrens.org/conditions/brain-tumor/atypical-teratoid-rhabdoid-tumor.aspx. Accessed on December 21, 2015
  10. Classification of atypical teratoid rhabdoid tumor. Dana-Farber Cancer Institute 2015. http://www.dana-farber.org/Health-Library/Childhood-AT/RT---Atypical-Teratoid-Rhabdoid-Tumor.aspx. Accessed on December 14, 2015
  11. Epidemiology of atypical teratoid rhabdoid tumor. Dr Bruno Di Muzio and Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/atypical-teratoidrhabdoid-tumour. Accessed on December 10, 2015
  12. Clinical presentation of atypical teratoid rhabdoid tumor. National Cancer Institute 2015. http://www.cancer.gov/types/brain/hp/child-cns-atrt-treatment-pdq#link/_113_toc. Accessed on December 16, 2015
  13. 13.0 13.1 Udaka, Y. T.; Shayan, K.; Chuang, N. A.; Crawford, J. R. (2013). "Atypical Presentation of Atypical Teratoid Rhabdoid Tumor in a Child". Case Reports in Oncological Medicine. 2013: 1–4. doi:10.1155/2013/815923. ISSN 2090-6706.
  14. Symptoms of atypical teratoid rhabdoid tumor. Dana-Farber Cancer Institute 2015. http://www.dana-farber.org/Health-Library/Childhood-AT/RT---Atypical-Teratoid-Rhabdoid-Tumor.aspx. Accessed on December 14, 2015
  15. Lu L, Wilkinson EJ, Yachnis AT (2000). "CSF cytology of atypical teratoid/rhabdoid tumor of the brain in a two-year-old girl: a case report". Diagn. Cytopathol. 23 (5): 329–32. PMID 11074628.
  16. CT brain radiographic features 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 16, 2015
  17. Diagnosis of atypical teratoid rhabdoid tumor. Dana-Farber Cancer Institute 2015. http://www.dana-farber.org/Health-Library/Childhood-AT/RT---Atypical-Teratoid-Rhabdoid-Tumor.aspx. Accessed on December 16, 2015
  18. Diagnostic evaluation of atypical teratoid rhabdoid tumor. National Cancer Institute 2015. http://www.cancer.gov/types/brain/hp/child-cns-atrt-treatment-pdq#link/_113_toc. Accessed on December 16, 2015

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