KIT exon 11 codon 557/558 deletion/insertion mutations define a subset of gastrointestinal stromal tumors with malignant potential
AIM: To study the association of the frequency and pattern of KIT and PDGFRA mutations and clinicopathological factors in a group of patients with gastrointestinal stromal tumors (GIST). METHODS: Thirty patients with GIST were examined. Exons 9, 11, 13, and 17 of the KIT and exons 12 and 18 of the P...
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Veröffentlicht in: | World journal of gastroenterology : WJG 2008-03, Vol.14 (12), p.1891-1897 |
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container_issue | 12 |
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container_title | World journal of gastroenterology : WJG |
container_volume | 14 |
creator | Kontogianni-Katsarou, Katerina Dimitriadis, Euthimios Lariou, Constantina Kairi-Vassilatou, Evi Pandis, Nikolaos Kondi-Paphiti, Agatha |
description | AIM: To study the association of the frequency and pattern of KIT and PDGFRA mutations and clinicopathological factors in a group of patients with gastrointestinal stromal tumors (GIST). METHODS: Thirty patients with GIST were examined. Exons 9, 11, 13, and 17 of the KIT and exons 12 and 18 of the PDGFRA gene were analyzed for the presence of mutations by PCR amplification and direct sequencing. RESULTS: KIT or PDGFRA mutations were detected in 21 of the 30 patients (70%). Sixteen patients had mutations within KIT exon 11, three within KIT exon 9, and two within PDGFRA exon 18. GISTs with KIT exon 9 mutations were predominantly located in the small intestine, showed a spindle cell phenotype, and were assessed as potentially malignant. GISTs with KIT exon 11 mutations were located in the stomach and intestine, showed mainly a spindle cell phenotype, and were scored as potentially malignant (P 〈 0.05). Tumors with KIT exon 11 codon 557/558 deletion/insertion mutations were found to be associated with a potentially malignant clinical behaviour (P 〈 0.003). GISTs with PDGFRA mutations located in stomach showed a mixed cell phenotype and were classified as of very low or low moderate malignant potential. CONCLUSION: Determination of KIT and PDGFRA mutations should be additional parameters for the better prediction of GISTs clinical behaviour. Tumors with deletion/insertion mutations affecting codons 557/558 of the KIT gene seem to represent a distinct subset of malignant GISTs. |
doi_str_mv | 10.3748/wjg.14.1891 |
format | Article |
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METHODS: Thirty patients with GIST were examined. Exons 9, 11, 13, and 17 of the KIT and exons 12 and 18 of the PDGFRA gene were analyzed for the presence of mutations by PCR amplification and direct sequencing. RESULTS: KIT or PDGFRA mutations were detected in 21 of the 30 patients (70%). Sixteen patients had mutations within KIT exon 11, three within KIT exon 9, and two within PDGFRA exon 18. GISTs with KIT exon 9 mutations were predominantly located in the small intestine, showed a spindle cell phenotype, and were assessed as potentially malignant. GISTs with KIT exon 11 mutations were located in the stomach and intestine, showed mainly a spindle cell phenotype, and were scored as potentially malignant (P 〈 0.05). Tumors with KIT exon 11 codon 557/558 deletion/insertion mutations were found to be associated with a potentially malignant clinical behaviour (P 〈 0.003). GISTs with PDGFRA mutations located in stomach showed a mixed cell phenotype and were classified as of very low or low moderate malignant potential. CONCLUSION: Determination of KIT and PDGFRA mutations should be additional parameters for the better prediction of GISTs clinical behaviour. Tumors with deletion/insertion mutations affecting codons 557/558 of the KIT gene seem to represent a distinct subset of malignant GISTs.</description><identifier>ISSN: 1007-9327</identifier><identifier>EISSN: 2219-2840</identifier><identifier>DOI: 10.3748/wjg.14.1891</identifier><identifier>PMID: 18350628</identifier><language>eng</language><publisher>United States: Department of Pathology, Athens Medical School,Areteion University Hospital, Athens, Greece%Department of Genetics, Saint Savvas Anticancer Hospital, Athens, Greece%Department of Pathology, "Evangelismos"General Hospital, Athens, Greece</publisher><subject>Aged ; Aged, 80 and over ; Amino Acid Sequence ; DNA Mutational Analysis ; Exons ; Female ; Gastrointestinal Stromal Tumors - genetics ; Gastrointestinal Stromal Tumors - pathology ; Humans ; KIT基因 ; Male ; Middle Aged ; Molecular Sequence Data ; Mutagenesis, Insertional ; Phenotype ; Proto-Oncogene Proteins c-kit - genetics ; Proto-Oncogene Proteins c-kit - metabolism ; Rapid Communication ; Receptor, Platelet-Derived Growth Factor alpha - genetics ; Receptor, Platelet-Derived Growth Factor alpha - metabolism ; Retrospective Studies ; Sequence Deletion ; 外显子 ; 生长因子 ; 胃肠肿瘤</subject><ispartof>World journal of gastroenterology : WJG, 2008-03, Vol.14 (12), p.1891-1897</ispartof><rights>Copyright © Wanfang Data Co. Ltd. All Rights Reserved.</rights><rights>2008 The WJG Press and Baishideng. All rights reserved. 2008</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c435t-2e4baa8723c97c223eb0732ac652ebd0a23d59e66bedbdffa840ab570e5f531e3</citedby><cites>FETCH-LOGICAL-c435t-2e4baa8723c97c223eb0732ac652ebd0a23d59e66bedbdffa840ab570e5f531e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Uhttp://image.cqvip.com/vip1000/qk/84123X/84123X.jpg</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2700416/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2700416/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18350628$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kontogianni-Katsarou, Katerina</creatorcontrib><creatorcontrib>Dimitriadis, Euthimios</creatorcontrib><creatorcontrib>Lariou, Constantina</creatorcontrib><creatorcontrib>Kairi-Vassilatou, Evi</creatorcontrib><creatorcontrib>Pandis, Nikolaos</creatorcontrib><creatorcontrib>Kondi-Paphiti, Agatha</creatorcontrib><title>KIT exon 11 codon 557/558 deletion/insertion mutations define a subset of gastrointestinal stromal tumors with malignant potential</title><title>World journal of gastroenterology : WJG</title><addtitle>World Journal of Gastroenterology</addtitle><description>AIM: To study the association of the frequency and pattern of KIT and PDGFRA mutations and clinicopathological factors in a group of patients with gastrointestinal stromal tumors (GIST). METHODS: Thirty patients with GIST were examined. Exons 9, 11, 13, and 17 of the KIT and exons 12 and 18 of the PDGFRA gene were analyzed for the presence of mutations by PCR amplification and direct sequencing. RESULTS: KIT or PDGFRA mutations were detected in 21 of the 30 patients (70%). Sixteen patients had mutations within KIT exon 11, three within KIT exon 9, and two within PDGFRA exon 18. GISTs with KIT exon 9 mutations were predominantly located in the small intestine, showed a spindle cell phenotype, and were assessed as potentially malignant. GISTs with KIT exon 11 mutations were located in the stomach and intestine, showed mainly a spindle cell phenotype, and were scored as potentially malignant (P 〈 0.05). Tumors with KIT exon 11 codon 557/558 deletion/insertion mutations were found to be associated with a potentially malignant clinical behaviour (P 〈 0.003). GISTs with PDGFRA mutations located in stomach showed a mixed cell phenotype and were classified as of very low or low moderate malignant potential. CONCLUSION: Determination of KIT and PDGFRA mutations should be additional parameters for the better prediction of GISTs clinical behaviour. Tumors with deletion/insertion mutations affecting codons 557/558 of the KIT gene seem to represent a distinct subset of malignant GISTs.</description><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Amino Acid Sequence</subject><subject>DNA Mutational Analysis</subject><subject>Exons</subject><subject>Female</subject><subject>Gastrointestinal Stromal Tumors - genetics</subject><subject>Gastrointestinal Stromal Tumors - pathology</subject><subject>Humans</subject><subject>KIT基因</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Molecular Sequence Data</subject><subject>Mutagenesis, Insertional</subject><subject>Phenotype</subject><subject>Proto-Oncogene Proteins c-kit - genetics</subject><subject>Proto-Oncogene Proteins c-kit - metabolism</subject><subject>Rapid Communication</subject><subject>Receptor, Platelet-Derived Growth Factor alpha - genetics</subject><subject>Receptor, Platelet-Derived Growth Factor alpha - metabolism</subject><subject>Retrospective Studies</subject><subject>Sequence Deletion</subject><subject>外显子</subject><subject>生长因子</subject><subject>胃肠肿瘤</subject><issn>1007-9327</issn><issn>2219-2840</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkcuP0zAQxi0EYsvCiTuyEDeU1s84uSChFY8VK3FZztYkmaQuiV1ih8KVvxxHrXic5hvNT9-M_RHynLOtNKranQ7Dlqstr2r-gGyE4HUhKsUekg1nzBS1FOaKPInxwJiQUovH5IpXUrNSVBvy69PtPcUfwVPOaRu6LLQ2O60r2uGIyQW_cz7ivCo6LQlWEfOwdx4p0Lg0ERMNPR0gpjk4nzAm52GkazvlmpYpzJGeXNrT3LvBg0_0GBL65GB8Sh71MEZ8dqnX5Mv7d_c3H4u7zx9ub97eFa2SOhUCVQNQGSHb2rRCSGyYkQLaUgtsOgZCdrrGsmywa7q-h_wH0GjDUPdacpTX5M3Z97g0E3Zt3j7DaI-zm2D-aQM4-__Eu70dwncrDGOKl9ng1dngBL4HP9hDWOb80GhzBIKxigvGVcZen7F2DjHO2P9ZwZldE1txy5VdE8v0i3-v-steIsrAy4vdPvjhm8t7G2i_9m5EK8paMV4r-Rsq0aBB</recordid><startdate>20080328</startdate><enddate>20080328</enddate><creator>Kontogianni-Katsarou, Katerina</creator><creator>Dimitriadis, Euthimios</creator><creator>Lariou, Constantina</creator><creator>Kairi-Vassilatou, Evi</creator><creator>Pandis, Nikolaos</creator><creator>Kondi-Paphiti, Agatha</creator><general>Department of Pathology, Athens Medical School,Areteion University Hospital, Athens, Greece%Department of Genetics, Saint Savvas Anticancer Hospital, Athens, Greece%Department of Pathology, "Evangelismos"General Hospital, Athens, Greece</general><general>The WJG Press and Baishideng</general><scope>2RA</scope><scope>92L</scope><scope>CQIGP</scope><scope>W91</scope><scope>~WA</scope><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>2B.</scope><scope>4A8</scope><scope>92I</scope><scope>93N</scope><scope>PSX</scope><scope>TCJ</scope><scope>5PM</scope></search><sort><creationdate>20080328</creationdate><title>KIT exon 11 codon 557/558 deletion/insertion mutations define a subset of gastrointestinal stromal tumors with malignant potential</title><author>Kontogianni-Katsarou, Katerina ; Dimitriadis, Euthimios ; Lariou, Constantina ; Kairi-Vassilatou, Evi ; Pandis, Nikolaos ; Kondi-Paphiti, Agatha</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c435t-2e4baa8723c97c223eb0732ac652ebd0a23d59e66bedbdffa840ab570e5f531e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Amino Acid Sequence</topic><topic>DNA Mutational Analysis</topic><topic>Exons</topic><topic>Female</topic><topic>Gastrointestinal Stromal Tumors - genetics</topic><topic>Gastrointestinal Stromal Tumors - pathology</topic><topic>Humans</topic><topic>KIT基因</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Molecular Sequence Data</topic><topic>Mutagenesis, Insertional</topic><topic>Phenotype</topic><topic>Proto-Oncogene Proteins c-kit - genetics</topic><topic>Proto-Oncogene Proteins c-kit - metabolism</topic><topic>Rapid Communication</topic><topic>Receptor, Platelet-Derived Growth Factor alpha - genetics</topic><topic>Receptor, Platelet-Derived Growth Factor alpha - metabolism</topic><topic>Retrospective Studies</topic><topic>Sequence Deletion</topic><topic>外显子</topic><topic>生长因子</topic><topic>胃肠肿瘤</topic><toplevel>online_resources</toplevel><creatorcontrib>Kontogianni-Katsarou, Katerina</creatorcontrib><creatorcontrib>Dimitriadis, Euthimios</creatorcontrib><creatorcontrib>Lariou, Constantina</creatorcontrib><creatorcontrib>Kairi-Vassilatou, Evi</creatorcontrib><creatorcontrib>Pandis, Nikolaos</creatorcontrib><creatorcontrib>Kondi-Paphiti, Agatha</creatorcontrib><collection>中文科技期刊数据库</collection><collection>中文科技期刊数据库-CALIS站点</collection><collection>中文科技期刊数据库-7.0平台</collection><collection>中文科技期刊数据库-医药卫生</collection><collection>中文科技期刊数据库- 镜像站点</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Wanfang Data Journals - Hong Kong</collection><collection>WANFANG Data Centre</collection><collection>Wanfang Data Journals</collection><collection>万方数据期刊 - 香港版</collection><collection>China Online Journals (COJ)</collection><collection>China Online Journals (COJ)</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>World journal of gastroenterology : WJG</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kontogianni-Katsarou, Katerina</au><au>Dimitriadis, Euthimios</au><au>Lariou, Constantina</au><au>Kairi-Vassilatou, Evi</au><au>Pandis, Nikolaos</au><au>Kondi-Paphiti, Agatha</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>KIT exon 11 codon 557/558 deletion/insertion mutations define a subset of gastrointestinal stromal tumors with malignant potential</atitle><jtitle>World journal of gastroenterology : WJG</jtitle><addtitle>World Journal of Gastroenterology</addtitle><date>2008-03-28</date><risdate>2008</risdate><volume>14</volume><issue>12</issue><spage>1891</spage><epage>1897</epage><pages>1891-1897</pages><issn>1007-9327</issn><eissn>2219-2840</eissn><abstract>AIM: To study the association of the frequency and pattern of KIT and PDGFRA mutations and clinicopathological factors in a group of patients with gastrointestinal stromal tumors (GIST). METHODS: Thirty patients with GIST were examined. Exons 9, 11, 13, and 17 of the KIT and exons 12 and 18 of the PDGFRA gene were analyzed for the presence of mutations by PCR amplification and direct sequencing. RESULTS: KIT or PDGFRA mutations were detected in 21 of the 30 patients (70%). Sixteen patients had mutations within KIT exon 11, three within KIT exon 9, and two within PDGFRA exon 18. GISTs with KIT exon 9 mutations were predominantly located in the small intestine, showed a spindle cell phenotype, and were assessed as potentially malignant. GISTs with KIT exon 11 mutations were located in the stomach and intestine, showed mainly a spindle cell phenotype, and were scored as potentially malignant (P 〈 0.05). Tumors with KIT exon 11 codon 557/558 deletion/insertion mutations were found to be associated with a potentially malignant clinical behaviour (P 〈 0.003). GISTs with PDGFRA mutations located in stomach showed a mixed cell phenotype and were classified as of very low or low moderate malignant potential. CONCLUSION: Determination of KIT and PDGFRA mutations should be additional parameters for the better prediction of GISTs clinical behaviour. Tumors with deletion/insertion mutations affecting codons 557/558 of the KIT gene seem to represent a distinct subset of malignant GISTs.</abstract><cop>United States</cop><pub>Department of Pathology, Athens Medical School,Areteion University Hospital, Athens, Greece%Department of Genetics, Saint Savvas Anticancer Hospital, Athens, Greece%Department of Pathology, "Evangelismos"General Hospital, Athens, Greece</pub><pmid>18350628</pmid><doi>10.3748/wjg.14.1891</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Aged Aged, 80 and over Amino Acid Sequence DNA Mutational Analysis Exons Female Gastrointestinal Stromal Tumors - genetics Gastrointestinal Stromal Tumors - pathology Humans KIT基因 Male Middle Aged Molecular Sequence Data Mutagenesis, Insertional Phenotype Proto-Oncogene Proteins c-kit - genetics Proto-Oncogene Proteins c-kit - metabolism Rapid Communication Receptor, Platelet-Derived Growth Factor alpha - genetics Receptor, Platelet-Derived Growth Factor alpha - metabolism Retrospective Studies Sequence Deletion 外显子 生长因子 胃肠肿瘤 |
title | KIT exon 11 codon 557/558 deletion/insertion mutations define a subset of gastrointestinal stromal tumors with malignant potential |
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