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Next Generation Sequencing As an Aid to Diagnosis and Treatment of an Unusual Pediatric Brain Cancer

Classification of pediatric brain tumors with unusual histologic and clinical features may be a diagnostic challenge to the pathologist. We present a case of a 12-year-old girl with a primary intracranial tumor. The tumor classification was not certain initially, and the site of origin and clinical...

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Autores principales: Glod, John, Song, Mihae, Sharma, Archana, Tyagi, Rachana, Rhodes, Roy H., Weissmann, David J., Roychowdhury, Sudipta, Khan, Atif, Kane, Michael P., Hirshfield, Kim, Ganesan, Shridar, DiPaola, Robert S., Rodriguez-Rodriguez, Lorna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4263965/
https://www.ncbi.nlm.nih.gov/pubmed/25563358
http://dx.doi.org/10.3390/jpm4030402
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author Glod, John
Song, Mihae
Sharma, Archana
Tyagi, Rachana
Rhodes, Roy H.
Weissmann, David J.
Roychowdhury, Sudipta
Khan, Atif
Kane, Michael P.
Hirshfield, Kim
Ganesan, Shridar
DiPaola, Robert S.
Rodriguez-Rodriguez, Lorna
author_facet Glod, John
Song, Mihae
Sharma, Archana
Tyagi, Rachana
Rhodes, Roy H.
Weissmann, David J.
Roychowdhury, Sudipta
Khan, Atif
Kane, Michael P.
Hirshfield, Kim
Ganesan, Shridar
DiPaola, Robert S.
Rodriguez-Rodriguez, Lorna
author_sort Glod, John
collection PubMed
description Classification of pediatric brain tumors with unusual histologic and clinical features may be a diagnostic challenge to the pathologist. We present a case of a 12-year-old girl with a primary intracranial tumor. The tumor classification was not certain initially, and the site of origin and clinical behavior were unusual. Genomic characterization of the tumor using a Clinical Laboratory Improvement Amendment (CLIA)-certified next-generation sequencing assay assisted in the diagnosis and translated into patient benefit, albeit transient. Our case argues that next generation sequencing may play a role in the pathological classification of pediatric brain cancers and guiding targeted therapy, supporting additional studies of genetically targeted therapeutics.
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spelling pubmed-42639652014-12-15 Next Generation Sequencing As an Aid to Diagnosis and Treatment of an Unusual Pediatric Brain Cancer Glod, John Song, Mihae Sharma, Archana Tyagi, Rachana Rhodes, Roy H. Weissmann, David J. Roychowdhury, Sudipta Khan, Atif Kane, Michael P. Hirshfield, Kim Ganesan, Shridar DiPaola, Robert S. Rodriguez-Rodriguez, Lorna J Pers Med Case Report Classification of pediatric brain tumors with unusual histologic and clinical features may be a diagnostic challenge to the pathologist. We present a case of a 12-year-old girl with a primary intracranial tumor. The tumor classification was not certain initially, and the site of origin and clinical behavior were unusual. Genomic characterization of the tumor using a Clinical Laboratory Improvement Amendment (CLIA)-certified next-generation sequencing assay assisted in the diagnosis and translated into patient benefit, albeit transient. Our case argues that next generation sequencing may play a role in the pathological classification of pediatric brain cancers and guiding targeted therapy, supporting additional studies of genetically targeted therapeutics. MDPI 2014-07-15 /pmc/articles/PMC4263965/ /pubmed/25563358 http://dx.doi.org/10.3390/jpm4030402 Text en © 2014 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).
spellingShingle Case Report
Glod, John
Song, Mihae
Sharma, Archana
Tyagi, Rachana
Rhodes, Roy H.
Weissmann, David J.
Roychowdhury, Sudipta
Khan, Atif
Kane, Michael P.
Hirshfield, Kim
Ganesan, Shridar
DiPaola, Robert S.
Rodriguez-Rodriguez, Lorna
Next Generation Sequencing As an Aid to Diagnosis and Treatment of an Unusual Pediatric Brain Cancer
title Next Generation Sequencing As an Aid to Diagnosis and Treatment of an Unusual Pediatric Brain Cancer
title_full Next Generation Sequencing As an Aid to Diagnosis and Treatment of an Unusual Pediatric Brain Cancer
title_fullStr Next Generation Sequencing As an Aid to Diagnosis and Treatment of an Unusual Pediatric Brain Cancer
title_full_unstemmed Next Generation Sequencing As an Aid to Diagnosis and Treatment of an Unusual Pediatric Brain Cancer
title_short Next Generation Sequencing As an Aid to Diagnosis and Treatment of an Unusual Pediatric Brain Cancer
title_sort next generation sequencing as an aid to diagnosis and treatment of an unusual pediatric brain cancer
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4263965/
https://www.ncbi.nlm.nih.gov/pubmed/25563358
http://dx.doi.org/10.3390/jpm4030402
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