Atypical teratoid rhabdoid tumor other diagnostic studies: Difference between revisions

	Atypical teratoid rhabdoid tumor Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Atypical Teratoid Rhabdoid Tumor from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Study of Choice
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-ray
Echocardiography and Ultrasound
CT scan
MRI
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Atypical teratoid rhabdoid tumor other diagnostic studies On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Atypical teratoid rhabdoid tumor other diagnostic studies All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Atypical teratoid rhabdoid tumor other diagnostic studies
CDC on Atypical teratoid rhabdoid tumor other diagnostic studies
Atypical teratoid rhabdoid tumor other diagnostic studies in the news
Blogs on Atypical teratoid rhabdoid tumor other diagnostic studies
Directions to Hospitals Treating Atypical teratoid rhabdoid tumor
Risk calculators and risk factors for Atypical teratoid rhabdoid tumor other diagnostic studies

VisualWikitext

Revision as of 21:03, 16 December 2015

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

Biopsy

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

Fluorescent In Situ Hybridization

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

Bone Marrow Aspiration

(Bone Marrow Asperant) to check for bone tumors. Often a doctor will want perform a stem cell transplant

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

Template:WH Template:WS

[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

[1]

@@ Line 10: / Line 10: @@
 ===Fluorescent In Situ Hybridization===
-[[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.
+*Fluorescence in situ hybridization demonstrates abnormalities of [[22q11.2 deletion syndrome|chromosome 22q11.2]].
-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.
 ===Bone Marrow Aspiration===