Diffuse glioma – Rare homozygous IDH point mutation, is it an oncogenetic mechanism?
Isocitrate dehydrogenase (IDH1/IDH2) mutations in gliomas of WHO grade II/III and secondary glioblastoma are almost always heterozygous missense mutations. Here, we report an extremely rare case of homozygous IDH1R132H mutation in a recurrent WHO grade III anaplastic astrocytoma. The authors here al...
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| Veröffentlicht in: | Neuropathology 2017-12, Vol.37 (6), p.582-585 |
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| container_title | Neuropathology |
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| creator | Singh, Angad Gurav, Mamta Dhanavade, Sandeep Shetty, Omshree Epari, Sridhar |
| description | Isocitrate dehydrogenase (IDH1/IDH2) mutations in gliomas of WHO grade II/III and secondary glioblastoma are almost always heterozygous missense mutations. Here, we report an extremely rare case of homozygous IDH1R132H mutation in a recurrent WHO grade III anaplastic astrocytoma. The authors here also review the relevant literature for the possible metabolic impact of homozygous IDH1/2 mutations in the gliomagenesis. |
| doi_str_mv | 10.1111/neup.12401 |
| format | Article |
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The authors here also review the relevant literature for the possible metabolic impact of homozygous IDH1/2 mutations in the gliomagenesis.</description><subject>Astrocytoma</subject><subject>Brain tumors</subject><subject>DNA</subject><subject>Glioblastoma</subject><subject>Glioma</subject><subject>homozygous point mutation</subject><subject>Isocitrate dehydrogenase</subject><subject>Missense mutation</subject><subject>Mutation</subject><subject>Point mutation</subject><subject>sequence analysis</subject><issn>0919-6544</issn><issn>1440-1789</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><recordid>eNp9kLFOwzAQQC0EoqWw8AHIEhsixZc4sT0h1BZaqQKEKGvkpHbrqolDnAiViX_gD_kSUlIYueWWp3enh9ApkD40c5WruuiDTwnsoS5QSjxgXOyjLhEgvCiktIOOnFsRAkz4_BB1fM64z6noopeh0bp2Ci_WxmYSf3184idZKry0mX3fLGzt8GQ4xoU1eYWzupKVsfklNg6bCssc2zy1C5WryqQ4U-lS5sZl18foQMu1Uye73UOz29HzYOxNH-4mg5uplwaUgyeZzwPNiWzeSQhRCVNMBTJhOggpMBAgdULn0heUCwY61Fo0qI4IC-eRkEEPnbfeorSvtXJVvLJ1mTcnYxAsiBgBnzTURUulpXWuVDouSpPJchMDibcJ423C-CdhA5_tlHWSqfkf-tusAaAF3sxabf5Rxfej2WMr_QZvd3uk</recordid><startdate>201712</startdate><enddate>201712</enddate><creator>Singh, Angad</creator><creator>Gurav, Mamta</creator><creator>Dhanavade, Sandeep</creator><creator>Shetty, Omshree</creator><creator>Epari, Sridhar</creator><general>Wiley Subscription Services, Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>K9.</scope><orcidid>https://orcid.org/0000-0002-3885-4779</orcidid><orcidid>https://orcid.org/0000-0002-1038-5755</orcidid></search><sort><creationdate>201712</creationdate><title>Diffuse glioma – Rare homozygous IDH point mutation, is it an oncogenetic mechanism?</title><author>Singh, Angad ; Gurav, Mamta ; Dhanavade, Sandeep ; Shetty, Omshree ; Epari, Sridhar</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3481-a7283f80a782b00eb7e7e3ab7f35417191afb4da2948971f5ff9782f6075d69a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Astrocytoma</topic><topic>Brain tumors</topic><topic>DNA</topic><topic>Glioblastoma</topic><topic>Glioma</topic><topic>homozygous point mutation</topic><topic>Isocitrate dehydrogenase</topic><topic>Missense mutation</topic><topic>Mutation</topic><topic>Point mutation</topic><topic>sequence analysis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Singh, Angad</creatorcontrib><creatorcontrib>Gurav, Mamta</creatorcontrib><creatorcontrib>Dhanavade, Sandeep</creatorcontrib><creatorcontrib>Shetty, Omshree</creatorcontrib><creatorcontrib>Epari, Sridhar</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><jtitle>Neuropathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Singh, Angad</au><au>Gurav, Mamta</au><au>Dhanavade, Sandeep</au><au>Shetty, Omshree</au><au>Epari, Sridhar</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Diffuse glioma – Rare homozygous IDH point mutation, is it an oncogenetic mechanism?</atitle><jtitle>Neuropathology</jtitle><addtitle>Neuropathology</addtitle><date>2017-12</date><risdate>2017</risdate><volume>37</volume><issue>6</issue><spage>582</spage><epage>585</epage><pages>582-585</pages><issn>0919-6544</issn><eissn>1440-1789</eissn><abstract>Isocitrate dehydrogenase (IDH1/IDH2) mutations in gliomas of WHO grade II/III and secondary glioblastoma are almost always heterozygous missense mutations. 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| ispartof | Neuropathology, 2017-12, Vol.37 (6), p.582-585 |
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| language | eng |
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| source | Wiley Online Library Journals Frontfile Complete |
| subjects | Astrocytoma Brain tumors DNA Glioblastoma Glioma homozygous point mutation Isocitrate dehydrogenase Missense mutation Mutation Point mutation sequence analysis |
| title | Diffuse glioma – Rare homozygous IDH point mutation, is it an oncogenetic mechanism? |
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