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Finding of IDH1 R132H mutation in histologically non-neoplastic glial tissue changes surgical strategies, a case report
Introduction In 2016, the WHO classification of diffuse astrocytoma began to include isocitrate dehydrogenase (IDH) mutation in addition to histology. Results We here demonstrate a case where a 14-year-old boy presented with a parietal tumor with no histological evidence of neoplasia but with an IDH...
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Published in: | Child's nervous system 2017-07, Vol.33 (7), p.1217-1220 |
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container_issue | 7 |
container_start_page | 1217 |
container_title | Child's nervous system |
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creator | Søndergaard, Christian Baastrup Scheie, David Sehested, Astrid Marie Skjøth-Rasmussen, Jane |
description | Introduction
In 2016, the WHO classification of diffuse astrocytoma began to include isocitrate dehydrogenase (IDH) mutation in addition to histology.
Results
We here demonstrate a case where a 14-year-old boy presented with a parietal tumor with no histological evidence of neoplasia but with an IDH1 mutation. Due to the IDH1 R132H mutation, the patient was diagnosed with diffuse astrocytoma WHO grade II and underwent successful gross total resection of this near-eloquently located tumor.
Conclusion
This case exemplifies how inclusion of immunohistochemistry in tumor classification alters surgical strategy and might improve accuracy and time to diagnosis. |
doi_str_mv | 10.1007/s00381-017-3348-7 |
format | article |
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In 2016, the WHO classification of diffuse astrocytoma began to include isocitrate dehydrogenase (IDH) mutation in addition to histology.
Results
We here demonstrate a case where a 14-year-old boy presented with a parietal tumor with no histological evidence of neoplasia but with an IDH1 mutation. Due to the IDH1 R132H mutation, the patient was diagnosed with diffuse astrocytoma WHO grade II and underwent successful gross total resection of this near-eloquently located tumor.
Conclusion
This case exemplifies how inclusion of immunohistochemistry in tumor classification alters surgical strategy and might improve accuracy and time to diagnosis.</description><identifier>ISSN: 0256-7040</identifier><identifier>EISSN: 1433-0350</identifier><identifier>DOI: 10.1007/s00381-017-3348-7</identifier><identifier>PMID: 28236063</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Adolescent ; Astrocytoma - genetics ; Astrocytoma - pathology ; Astrocytoma - surgery ; Brain Neoplasms - genetics ; Brain Neoplasms - pathology ; Brain Neoplasms - surgery ; Case Report ; Humans ; Isocitrate Dehydrogenase - genetics ; Male ; Medicine ; Medicine & Public Health ; Mutation - genetics ; Neurosciences ; Neurosurgery</subject><ispartof>Child's nervous system, 2017-07, Vol.33 (7), p.1217-1220</ispartof><rights>Springer-Verlag Berlin Heidelberg 2017</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c344t-ccaee62d32d162a892ae397d1e2a3f82e67834af595af0af4768f0a2064128cb3</citedby><cites>FETCH-LOGICAL-c344t-ccaee62d32d162a892ae397d1e2a3f82e67834af595af0af4768f0a2064128cb3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28236063$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Søndergaard, Christian Baastrup</creatorcontrib><creatorcontrib>Scheie, David</creatorcontrib><creatorcontrib>Sehested, Astrid Marie</creatorcontrib><creatorcontrib>Skjøth-Rasmussen, Jane</creatorcontrib><title>Finding of IDH1 R132H mutation in histologically non-neoplastic glial tissue changes surgical strategies, a case report</title><title>Child's nervous system</title><addtitle>Childs Nerv Syst</addtitle><addtitle>Childs Nerv Syst</addtitle><description>Introduction
In 2016, the WHO classification of diffuse astrocytoma began to include isocitrate dehydrogenase (IDH) mutation in addition to histology.
Results
We here demonstrate a case where a 14-year-old boy presented with a parietal tumor with no histological evidence of neoplasia but with an IDH1 mutation. Due to the IDH1 R132H mutation, the patient was diagnosed with diffuse astrocytoma WHO grade II and underwent successful gross total resection of this near-eloquently located tumor.
Conclusion
This case exemplifies how inclusion of immunohistochemistry in tumor classification alters surgical strategy and might improve accuracy and time to diagnosis.</description><subject>Adolescent</subject><subject>Astrocytoma - genetics</subject><subject>Astrocytoma - pathology</subject><subject>Astrocytoma - surgery</subject><subject>Brain Neoplasms - genetics</subject><subject>Brain Neoplasms - pathology</subject><subject>Brain Neoplasms - surgery</subject><subject>Case Report</subject><subject>Humans</subject><subject>Isocitrate Dehydrogenase - genetics</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mutation - genetics</subject><subject>Neurosciences</subject><subject>Neurosurgery</subject><issn>0256-7040</issn><issn>1433-0350</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><recordid>eNp9kD1vFDEURS0EIkvgB9AglxQY_DVjT4kCYSNFQkJQWy8ez8SR1178PEL59zhsoKS6xTv3Su8Q8lrw94Jz8wE5V1YwLgxTSltmnpCd0Eoxrgb-lOy4HEZmuOZn5AXiHedisHJ6Ts6klWrko9qRX5cxzzGvtCz06tNe0G9CyT09bA1aLJnGTG8jtpLKGj2kdE9zySyHckyALXq6pgiJtoi4BepvIa8BKW71D06xVWhhjQHfUaAeMNAajqW2l-TZAgnDq8c8Jz8uP3-_2LPrr1-uLj5eM6-0bsx7CGGUs5KzGCXYSUJQk5lFkKAWK8NorNKwDNMAC4dFm9H2lHzUQlp_o87J29PusZafW8DmDhF9SAn6Dxs6YY0cjJ646qg4ob4WxBoWd6zxAPXeCe4efLuTb9d9uwffzvTOm8f57eYQ5n-Nv4I7IE8A9lN3U91d2WruL_9n9Tc61ouH</recordid><startdate>20170701</startdate><enddate>20170701</enddate><creator>Søndergaard, Christian Baastrup</creator><creator>Scheie, David</creator><creator>Sehested, Astrid Marie</creator><creator>Skjøth-Rasmussen, Jane</creator><general>Springer Berlin Heidelberg</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20170701</creationdate><title>Finding of IDH1 R132H mutation in histologically non-neoplastic glial tissue changes surgical strategies, a case report</title><author>Søndergaard, Christian Baastrup ; Scheie, David ; Sehested, Astrid Marie ; Skjøth-Rasmussen, Jane</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c344t-ccaee62d32d162a892ae397d1e2a3f82e67834af595af0af4768f0a2064128cb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Adolescent</topic><topic>Astrocytoma - genetics</topic><topic>Astrocytoma - pathology</topic><topic>Astrocytoma - surgery</topic><topic>Brain Neoplasms - genetics</topic><topic>Brain Neoplasms - pathology</topic><topic>Brain Neoplasms - surgery</topic><topic>Case Report</topic><topic>Humans</topic><topic>Isocitrate Dehydrogenase - genetics</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Mutation - genetics</topic><topic>Neurosciences</topic><topic>Neurosurgery</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Søndergaard, Christian Baastrup</creatorcontrib><creatorcontrib>Scheie, David</creatorcontrib><creatorcontrib>Sehested, Astrid Marie</creatorcontrib><creatorcontrib>Skjøth-Rasmussen, Jane</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Child's nervous system</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Søndergaard, Christian Baastrup</au><au>Scheie, David</au><au>Sehested, Astrid Marie</au><au>Skjøth-Rasmussen, Jane</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Finding of IDH1 R132H mutation in histologically non-neoplastic glial tissue changes surgical strategies, a case report</atitle><jtitle>Child's nervous system</jtitle><stitle>Childs Nerv Syst</stitle><addtitle>Childs Nerv Syst</addtitle><date>2017-07-01</date><risdate>2017</risdate><volume>33</volume><issue>7</issue><spage>1217</spage><epage>1220</epage><pages>1217-1220</pages><issn>0256-7040</issn><eissn>1433-0350</eissn><abstract>Introduction
In 2016, the WHO classification of diffuse astrocytoma began to include isocitrate dehydrogenase (IDH) mutation in addition to histology.
Results
We here demonstrate a case where a 14-year-old boy presented with a parietal tumor with no histological evidence of neoplasia but with an IDH1 mutation. Due to the IDH1 R132H mutation, the patient was diagnosed with diffuse astrocytoma WHO grade II and underwent successful gross total resection of this near-eloquently located tumor.
Conclusion
This case exemplifies how inclusion of immunohistochemistry in tumor classification alters surgical strategy and might improve accuracy and time to diagnosis.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>28236063</pmid><doi>10.1007/s00381-017-3348-7</doi><tpages>4</tpages></addata></record> |
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subjects | Adolescent Astrocytoma - genetics Astrocytoma - pathology Astrocytoma - surgery Brain Neoplasms - genetics Brain Neoplasms - pathology Brain Neoplasms - surgery Case Report Humans Isocitrate Dehydrogenase - genetics Male Medicine Medicine & Public Health Mutation - genetics Neurosciences Neurosurgery |
title | Finding of IDH1 R132H mutation in histologically non-neoplastic glial tissue changes surgical strategies, a case report |
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