Atypical teratoid rhabdoid tumor other diagnostic studies: Difference between revisions

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Latest revision as of 21:06, 16 May 2019

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]

Overview

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).

Other Diagnostic Studies

Biopsy

Biopsy is performed for the definitive diagnosis of atypical teratoid rhabdoid tumor.^[1]

Fluorescent In Situ Hybridization

Fluorescence in situ hybridization demonstrates abnormalities of chromosome 22q11.2.

Immunohistochemistry

Immunohistochemistry studies reveal the loss of INI-1 staining in the neoplastic cells confirming the diagnosis of atypical teratoid rhabdoid tumor.^[2]

References

↑ 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
↑ 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.

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[biopsyatrt1-1] 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

[UdakaShayan2013-2] 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.

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@@ Line 4: / Line 4: @@
 ==Overview==
+Other [[Diagnosis|diagnostic]] studies for atypical teratoid rhabdoid tumor include [[biopsy]] (definitive [[Diagnosis|diagnostic]] [[test]]), [[fluorescence in situ hybridization]] (abnormalities of [[22q11.2 deletion syndrome|chromosome 22q11.2]]), and [[immunohistochemistry]] (loss of INI-1 [[staining]] in the [[Cancer|neoplastic]] [[Cell (biology)|cells]]).
 ==Other Diagnostic Studies==
-===Lumbar Puncture===
-Lumbar Puncture may be performed to detect any CSF metastases of atypical teratoid rhabdoid tumor.
 ===Biopsy===
-Usually only a minority of AT/RT biopsies have Rhabdoid cells, making diagnosis more difficult.  Increasingly it is recommended that a genetic analysis be performed on the brain tumor, especially to find if a deletion in the INI1/hSNF5 gene is involved (appears to account for over 80% of the cases).  The correct diagnosis of the tumor is critical to any protocol.  Studies have shown that 8% to over 50% of AT/RT tumors are diagnosed incorrectly.
+[[Biopsy]] is performed for the definitive [[diagnosis]] of atypical teratoid rhabdoid tumor.<ref name="biopsyatrt1">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</ref>
-===Cytogenetic Studies===
-[[Cytogenetics]] is the study of the tumor’s genetic make-up.  A technique called [[Fluorescent in situ hybridization|fluoresecene in situ hybridization (FISH)]] has been gaining attention in the literature because it may be able to help locate a mutation or abnormality that may be allowing tumor growth.  Also, this technique has been shown to be useful in identifying some tumors and distinguishing two histologically similar tumors from each other (such as AT/RTs and PNETs). In particular, medulloblastmas/PNETs may possibly be differentiated cytogenetically from AT/RTs as chromosomal deletions of 17p are relatively common with medulloblastoma and abnormalities of [[22q11.2 deletion syndrome|22q11.2]] are not seen.  On the other hand, chromosomal 22 deletions are very comomon in AT/RTs.
-In importance of the [[SWI/SNF|hSNF5/INI1]] gene located on chromosomal band [[22q11.2 deletion syndrome|22q11.2]] is highlighted in the summary paper form the Workshop on Childhood Atypical Teratoid Rhabdoid Tumors as the mutation’s presence is sufficient to change the diagnosis from a medulloblastoma or PNET to the more aggressive AT/RT classification. However, it should be noted that this mutation is not present in 100% of cases.  Therefore, if the mutation is not present in an otherwise classic AT/RT immunohistochemical and morphologic pattern then the diagnosis remains an AT/RT.
+===Fluorescent In Situ Hybridization===
+[[Fluorescence in situ hybridization]] demonstrates abnormalities of [[22q11.2 deletion syndrome|chromosome 22q11.2]].
-===BMA=== ([[Bone marrow examination|Bone Marrow Asperant]]) to check for bone tumors.  Often a doctor will want perform a [[Hematopoietic stem cell transplantation|stem cell transplant]]
+===Immunohistochemistry===
+[[Immunohistochemistry]] studies reveal the loss of INI-1 [[staining]] in the [[Cancer|neoplastic]] [[Cell (biology)|cells]] confirming the [[diagnosis]] of atypical teratoid rhabdoid tumor.<ref name="UdakaShayan2013">{{cite journal|last1=Udaka|first1=Y. T.|last2=Shayan|first2=K.|last3=Chuang|first3=N. A.|last4=Crawford|first4=J. R.|title=Atypical Presentation of Atypical Teratoid Rhabdoid Tumor in a Child|journal=Case Reports in Oncological Medicine|volume=2013|year=2013|pages=1–4|issn=2090-6706|doi=10.1155/2013/815923}}</ref>
 ==References==