Glioblastoma in neurofibromatosis 1 patients without IDH1, BRAF V600E, and TERT promoter mutations
Pilocytic astrocytomas and low-grade gliomas are more common compared with glioblastomas in patients with neurofibromatosis 1 (NF1). A recent genome-wide analysis has shown frequent NF1 gene alterations in the mesenchymal subtype of a glioblastoma; however, little is known about clinicopathological...
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| Veröffentlicht in: | Brain tumor pathology 2018-01, Vol.35 (1), p.10-18 |
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| creator | Shibahara, Ichiyo Sonoda, Yukihiko Suzuki, Hiroyoshi Mayama, Akifumi Kanamori, Masayuki Saito, Ryuta Suzuki, Yasuhiro Mashiyama, Shoji Uenohara, Hiroshi Watanabe, Mika Kumabe, Toshihiro Tominaga, Teiji |
| description | Pilocytic astrocytomas and low-grade gliomas are more common compared with glioblastomas in patients with neurofibromatosis 1 (NF1). A recent genome-wide analysis has shown frequent
NF1
gene alterations in the mesenchymal subtype of a glioblastoma; however, little is known about clinicopathological features of glioblastomas in NF1 patients (NF1 glioblastomas). We analyzed four NF1 glioblastomas. Radiographical and intraoperative findings showed well-circumscribed tumors from surrounding brain. Pathological analysis presented a paucity of processes with an eosinophilic cytoplasm, bizarre nuclei, xanthomatous-like appearance, multinucleated giant cells, and histiocytoid appearance. During the follow-up period, one patient died at 49 months and others remained alive for 60, 87, and 106 months; thus, patients with NF1 glioblastoma presented a relatively favorable survival. None of the NF1 glioblastomas harbored isocitrate dehydrogenase 1 (IDH1) gene mutation, v-RAF murine sarcoma viral oncogene homolog B1 (BRAF) gene mutation, and telomerase reverse transcriptase (TERT) gene promoter mutation. We identified that NF1 glioblastoma is a unique subset of glioblastoma. |
| doi_str_mv | 10.1007/s10014-017-0302-z |
| format | Article |
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NF1
gene alterations in the mesenchymal subtype of a glioblastoma; however, little is known about clinicopathological features of glioblastomas in NF1 patients (NF1 glioblastomas). We analyzed four NF1 glioblastomas. Radiographical and intraoperative findings showed well-circumscribed tumors from surrounding brain. Pathological analysis presented a paucity of processes with an eosinophilic cytoplasm, bizarre nuclei, xanthomatous-like appearance, multinucleated giant cells, and histiocytoid appearance. During the follow-up period, one patient died at 49 months and others remained alive for 60, 87, and 106 months; thus, patients with NF1 glioblastoma presented a relatively favorable survival. None of the NF1 glioblastomas harbored isocitrate dehydrogenase 1 (IDH1) gene mutation, v-RAF murine sarcoma viral oncogene homolog B1 (BRAF) gene mutation, and telomerase reverse transcriptase (TERT) gene promoter mutation. We identified that NF1 glioblastoma is a unique subset of glioblastoma.</description><identifier>ISSN: 1433-7398</identifier><identifier>EISSN: 1861-387X</identifier><identifier>DOI: 10.1007/s10014-017-0302-z</identifier><identifier>PMID: 29138945</identifier><language>eng</language><publisher>Singapore: Springer Singapore</publisher><subject>Adult ; Antigens ; Biopsy ; Brain cancer ; Brain Neoplasms - complications ; Brain Neoplasms - diagnostic imaging ; Brain Neoplasms - genetics ; Brain Neoplasms - pathology ; Cancer Research ; Chemotherapy ; Cloning ; Genetic disorders ; Genome-Wide Association Study ; Glioblastoma - complications ; Glioblastoma - diagnostic imaging ; Glioblastoma - genetics ; Glioblastoma - pathology ; Glioma ; Humans ; Isocitrate Dehydrogenase - genetics ; Male ; Medicine ; Medicine & Public Health ; Middle Aged ; Mutation ; Neurofibromatosis 1 - complications ; Neurofibromatosis 1 - diagnostic imaging ; Neurofibromatosis 1 - genetics ; Neurofibromatosis 1 - pathology ; Neurofibromin 1 - genetics ; Neurological disorders ; Neurology ; Neurosurgery ; Oncology ; Original Article ; Pathology ; Promoter Regions, Genetic - genetics ; Proto-Oncogene Proteins B-raf - genetics ; Radiation therapy ; Retrospective Studies ; Spectrum analysis ; Surgery ; Telomerase - genetics ; Tumors</subject><ispartof>Brain tumor pathology, 2018-01, Vol.35 (1), p.10-18</ispartof><rights>The Japan Society of Brain Tumor Pathology 2017</rights><rights>The Japan Society of Brain Tumor Pathology 2017.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c462t-cea585c1fdea88f3b3de87979c98da58dc230a104b779c34cd7413137e4e90713</citedby><cites>FETCH-LOGICAL-c462t-cea585c1fdea88f3b3de87979c98da58dc230a104b779c34cd7413137e4e90713</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10014-017-0302-z$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2917923580?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,776,780,21367,27901,27902,33721,33722,41464,42533,43781,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29138945$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Shibahara, Ichiyo</creatorcontrib><creatorcontrib>Sonoda, Yukihiko</creatorcontrib><creatorcontrib>Suzuki, Hiroyoshi</creatorcontrib><creatorcontrib>Mayama, Akifumi</creatorcontrib><creatorcontrib>Kanamori, Masayuki</creatorcontrib><creatorcontrib>Saito, Ryuta</creatorcontrib><creatorcontrib>Suzuki, Yasuhiro</creatorcontrib><creatorcontrib>Mashiyama, Shoji</creatorcontrib><creatorcontrib>Uenohara, Hiroshi</creatorcontrib><creatorcontrib>Watanabe, Mika</creatorcontrib><creatorcontrib>Kumabe, Toshihiro</creatorcontrib><creatorcontrib>Tominaga, Teiji</creatorcontrib><title>Glioblastoma in neurofibromatosis 1 patients without IDH1, BRAF V600E, and TERT promoter mutations</title><title>Brain tumor pathology</title><addtitle>Brain Tumor Pathol</addtitle><addtitle>Brain Tumor Pathol</addtitle><description>Pilocytic astrocytomas and low-grade gliomas are more common compared with glioblastomas in patients with neurofibromatosis 1 (NF1). A recent genome-wide analysis has shown frequent
NF1
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We identified that NF1 glioblastoma is a unique subset of glioblastoma.</description><subject>Adult</subject><subject>Antigens</subject><subject>Biopsy</subject><subject>Brain cancer</subject><subject>Brain Neoplasms - complications</subject><subject>Brain Neoplasms - diagnostic imaging</subject><subject>Brain Neoplasms - genetics</subject><subject>Brain Neoplasms - pathology</subject><subject>Cancer Research</subject><subject>Chemotherapy</subject><subject>Cloning</subject><subject>Genetic disorders</subject><subject>Genome-Wide Association Study</subject><subject>Glioblastoma - complications</subject><subject>Glioblastoma - diagnostic imaging</subject><subject>Glioblastoma - genetics</subject><subject>Glioblastoma - pathology</subject><subject>Glioma</subject><subject>Humans</subject><subject>Isocitrate Dehydrogenase - genetics</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Neurofibromatosis 1 - complications</subject><subject>Neurofibromatosis 1 - diagnostic imaging</subject><subject>Neurofibromatosis 1 - genetics</subject><subject>Neurofibromatosis 1 - pathology</subject><subject>Neurofibromin 1 - genetics</subject><subject>Neurological disorders</subject><subject>Neurology</subject><subject>Neurosurgery</subject><subject>Oncology</subject><subject>Original Article</subject><subject>Pathology</subject><subject>Promoter Regions, Genetic - genetics</subject><subject>Proto-Oncogene Proteins B-raf - genetics</subject><subject>Radiation therapy</subject><subject>Retrospective Studies</subject><subject>Spectrum analysis</subject><subject>Surgery</subject><subject>Telomerase - genetics</subject><subject>Tumors</subject><issn>1433-7398</issn><issn>1861-387X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp1kctKxTAQhoMo3h_AjQTcuLCaaXKaZOnleAFBkKO4C2mbaqVtjkmK6NM7cryA4CbJZL5_MpmfkB1gh8CYPIq4gsgYyIxxlmfvS2QdVAEZV_JhGc-C80xyrdbIRozPjAnBJKyStVwDV1pM1kl50bW-7GxMvre0HejgxuCbtgwYJx_bSIHObWrdkCJ9bdOTHxO9OruEA3pye3xO7wvGpgfUDjWdTW9ndI5Cn1yg_ZhQ5oe4RVYa20W3_bVvkrvz6ez0Mru-ubg6Pb7OKlHkKaucnahJBU3trFINL3ntlNRSV1rVmKqrnDMLTJQS77ioaimAA5dOOI3f4ptkf1EXW3gZXUymb2Plus4Ozo_RgC5EoTUrFKJ7f9BnP4YBuzM4GqlzPlEMKVhQVfAxBteYeWh7G94MMPNpgFkYYNAA82mAeUfN7lflsexd_aP4njgC-QKImBoeXfh9-v-qH6JXjzc</recordid><startdate>20180101</startdate><enddate>20180101</enddate><creator>Shibahara, Ichiyo</creator><creator>Sonoda, Yukihiko</creator><creator>Suzuki, Hiroyoshi</creator><creator>Mayama, Akifumi</creator><creator>Kanamori, Masayuki</creator><creator>Saito, Ryuta</creator><creator>Suzuki, Yasuhiro</creator><creator>Mashiyama, Shoji</creator><creator>Uenohara, Hiroshi</creator><creator>Watanabe, Mika</creator><creator>Kumabe, Toshihiro</creator><creator>Tominaga, Teiji</creator><general>Springer Singapore</general><general>Springer Nature B.V</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>7X8</scope></search><sort><creationdate>20180101</creationdate><title>Glioblastoma in neurofibromatosis 1 patients without IDH1, BRAF V600E, and TERT promoter mutations</title><author>Shibahara, Ichiyo ; Sonoda, Yukihiko ; Suzuki, Hiroyoshi ; Mayama, Akifumi ; Kanamori, Masayuki ; Saito, Ryuta ; Suzuki, Yasuhiro ; Mashiyama, Shoji ; Uenohara, Hiroshi ; Watanabe, Mika ; Kumabe, Toshihiro ; Tominaga, Teiji</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c462t-cea585c1fdea88f3b3de87979c98da58dc230a104b779c34cd7413137e4e90713</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Adult</topic><topic>Antigens</topic><topic>Biopsy</topic><topic>Brain cancer</topic><topic>Brain Neoplasms - complications</topic><topic>Brain Neoplasms - diagnostic imaging</topic><topic>Brain Neoplasms - genetics</topic><topic>Brain Neoplasms - pathology</topic><topic>Cancer Research</topic><topic>Chemotherapy</topic><topic>Cloning</topic><topic>Genetic disorders</topic><topic>Genome-Wide Association Study</topic><topic>Glioblastoma - complications</topic><topic>Glioblastoma - diagnostic imaging</topic><topic>Glioblastoma - genetics</topic><topic>Glioblastoma - pathology</topic><topic>Glioma</topic><topic>Humans</topic><topic>Isocitrate Dehydrogenase - genetics</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Neurofibromatosis 1 - complications</topic><topic>Neurofibromatosis 1 - diagnostic imaging</topic><topic>Neurofibromatosis 1 - genetics</topic><topic>Neurofibromatosis 1 - pathology</topic><topic>Neurofibromin 1 - genetics</topic><topic>Neurological disorders</topic><topic>Neurology</topic><topic>Neurosurgery</topic><topic>Oncology</topic><topic>Original Article</topic><topic>Pathology</topic><topic>Promoter Regions, Genetic - genetics</topic><topic>Proto-Oncogene Proteins B-raf - genetics</topic><topic>Radiation therapy</topic><topic>Retrospective Studies</topic><topic>Spectrum analysis</topic><topic>Surgery</topic><topic>Telomerase - genetics</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Shibahara, Ichiyo</creatorcontrib><creatorcontrib>Sonoda, Yukihiko</creatorcontrib><creatorcontrib>Suzuki, Hiroyoshi</creatorcontrib><creatorcontrib>Mayama, Akifumi</creatorcontrib><creatorcontrib>Kanamori, Masayuki</creatorcontrib><creatorcontrib>Saito, Ryuta</creatorcontrib><creatorcontrib>Suzuki, Yasuhiro</creatorcontrib><creatorcontrib>Mashiyama, Shoji</creatorcontrib><creatorcontrib>Uenohara, Hiroshi</creatorcontrib><creatorcontrib>Watanabe, Mika</creatorcontrib><creatorcontrib>Kumabe, Toshihiro</creatorcontrib><creatorcontrib>Tominaga, Teiji</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>MEDLINE - Academic</collection><jtitle>Brain tumor pathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Shibahara, Ichiyo</au><au>Sonoda, Yukihiko</au><au>Suzuki, Hiroyoshi</au><au>Mayama, Akifumi</au><au>Kanamori, Masayuki</au><au>Saito, Ryuta</au><au>Suzuki, Yasuhiro</au><au>Mashiyama, Shoji</au><au>Uenohara, Hiroshi</au><au>Watanabe, Mika</au><au>Kumabe, Toshihiro</au><au>Tominaga, Teiji</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Glioblastoma in neurofibromatosis 1 patients without IDH1, BRAF V600E, and TERT promoter mutations</atitle><jtitle>Brain tumor pathology</jtitle><stitle>Brain Tumor Pathol</stitle><addtitle>Brain Tumor Pathol</addtitle><date>2018-01-01</date><risdate>2018</risdate><volume>35</volume><issue>1</issue><spage>10</spage><epage>18</epage><pages>10-18</pages><issn>1433-7398</issn><eissn>1861-387X</eissn><abstract>Pilocytic astrocytomas and low-grade gliomas are more common compared with glioblastomas in patients with neurofibromatosis 1 (NF1). A recent genome-wide analysis has shown frequent
NF1
gene alterations in the mesenchymal subtype of a glioblastoma; however, little is known about clinicopathological features of glioblastomas in NF1 patients (NF1 glioblastomas). We analyzed four NF1 glioblastomas. Radiographical and intraoperative findings showed well-circumscribed tumors from surrounding brain. Pathological analysis presented a paucity of processes with an eosinophilic cytoplasm, bizarre nuclei, xanthomatous-like appearance, multinucleated giant cells, and histiocytoid appearance. During the follow-up period, one patient died at 49 months and others remained alive for 60, 87, and 106 months; thus, patients with NF1 glioblastoma presented a relatively favorable survival. None of the NF1 glioblastomas harbored isocitrate dehydrogenase 1 (IDH1) gene mutation, v-RAF murine sarcoma viral oncogene homolog B1 (BRAF) gene mutation, and telomerase reverse transcriptase (TERT) gene promoter mutation. We identified that NF1 glioblastoma is a unique subset of glioblastoma.</abstract><cop>Singapore</cop><pub>Springer Singapore</pub><pmid>29138945</pmid><doi>10.1007/s10014-017-0302-z</doi><tpages>9</tpages></addata></record> |
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| subjects | Adult Antigens Biopsy Brain cancer Brain Neoplasms - complications Brain Neoplasms - diagnostic imaging Brain Neoplasms - genetics Brain Neoplasms - pathology Cancer Research Chemotherapy Cloning Genetic disorders Genome-Wide Association Study Glioblastoma - complications Glioblastoma - diagnostic imaging Glioblastoma - genetics Glioblastoma - pathology Glioma Humans Isocitrate Dehydrogenase - genetics Male Medicine Medicine & Public Health Middle Aged Mutation Neurofibromatosis 1 - complications Neurofibromatosis 1 - diagnostic imaging Neurofibromatosis 1 - genetics Neurofibromatosis 1 - pathology Neurofibromin 1 - genetics Neurological disorders Neurology Neurosurgery Oncology Original Article Pathology Promoter Regions, Genetic - genetics Proto-Oncogene Proteins B-raf - genetics Radiation therapy Retrospective Studies Spectrum analysis Surgery Telomerase - genetics Tumors |
| title | Glioblastoma in neurofibromatosis 1 patients without IDH1, BRAF V600E, and TERT promoter mutations |
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