Frequent and Yet Unreported GNAQ and GNA11 Mutations are Found in Uveal Melanomas
Malignant melanoma of the uvea is the most common primary malignant tumor in the eye. We aimed to analyze GNAQ and GNA11 mutations in uveal melanomas using formalin-fixed, paraffin-embedded material and correlate the results with clinicopathological parameters. Tumor tissue was microdissected follow...
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| Veröffentlicht in: | Pathology oncology research 2019-10, Vol.25 (4), p.1319-1325 |
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| creator | Schneider, Bjoern Riedel, Katrin Zhivov, Andrey Huehns, Maja Zettl, Heike Guthoff, Rudolf F. Jünemann, Anselm Erbersdobler, Andreas Zimpfer, Annette |
| description | Malignant melanoma of the uvea is the most common primary malignant tumor in the eye. We aimed to analyze
GNAQ
and
GNA11
mutations in uveal melanomas using formalin-fixed, paraffin-embedded material and correlate the results with clinicopathological parameters. Tumor tissue was microdissected followed by amplification of
GNAQ
exon 4 and 5,
GNA11
exon 4 and 5, and finally analyzed by Sanger sequencing. A total of 64.4
GNA11/GNAQ
mutations, including ten yet unreported, were found. Two cases showed multiple mutations. Overall survival was significantly shorter in the uveal melanoma cohort with
GNAQ
exon 5 mutation. In concordance with previous studies, high frequencies of mutations in
GNAQ
or
GNA11
were detected. Interestingly, in about 20% of UM, not yet reported mutations in
GNAQ
or
GNA11
were seen. Rarely, uveal melanoma may harbor double mutations in
GNAQ
and/or
GNA11
. Recent data imply, that implementation of
GNAQ/GNA11
mutation analysis in routine diagnostic procedures might be helpful for future therapeutic decisions. |
| doi_str_mv | 10.1007/s12253-017-0371-7 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1973461092</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2308968370</sourcerecordid><originalsourceid>FETCH-LOGICAL-c400t-35bccd090bea27c9d715a020782b34f39b3461c6e688c9c1dcb6e3839481f59c3</originalsourceid><addsrcrecordid>eNp9kU9LAzEQxYMoWqsfwIsEvHhZnSTd_DmWYqvQKgV78BSy2alU2t2a7Ap-e1NbRQS9JEPm995MeIScMbhiAOo6Ms5zkQFTGQjFMrVHOiwXPOMa1H6qOTNZz-TyiBzH-AJJI408JEfccDBG5x0yHQZ8bbFqqKtK-oQNnVUB13VosKSj-_708z0VjNFJ27hmUVeRuoB0WLeps6jo7A3dkk5w6ap65eIJOZi7ZcTT3d0ls-HN4-A2Gz-M7gb9ceZ7AE0m8sL7EgwU6LjyplQsd8BBaV6I3lyYdErmJUqtvfGs9IVEoYXpaTbPjRddcrn1XYc6_SA2drWIHpdpDazbaJlRGwcwPKEXv9CXug1V2s5yAdpILRT8RyUvrpOdkoliW8qHOsaAc7sOi5UL75aB3aRit6nYlIrdpGJV0pzvnNtiheW34iuGBPAtEFOresbwY_Sfrh-e65ON</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1972873476</pqid></control><display><type>article</type><title>Frequent and Yet Unreported GNAQ and GNA11 Mutations are Found in Uveal Melanomas</title><source>MEDLINE</source><source>SpringerLink_现刊</source><creator>Schneider, Bjoern ; Riedel, Katrin ; Zhivov, Andrey ; Huehns, Maja ; Zettl, Heike ; Guthoff, Rudolf F. ; Jünemann, Anselm ; Erbersdobler, Andreas ; Zimpfer, Annette</creator><creatorcontrib>Schneider, Bjoern ; Riedel, Katrin ; Zhivov, Andrey ; Huehns, Maja ; Zettl, Heike ; Guthoff, Rudolf F. ; Jünemann, Anselm ; Erbersdobler, Andreas ; Zimpfer, Annette</creatorcontrib><description>Malignant melanoma of the uvea is the most common primary malignant tumor in the eye. We aimed to analyze
GNAQ
and
GNA11
mutations in uveal melanomas using formalin-fixed, paraffin-embedded material and correlate the results with clinicopathological parameters. Tumor tissue was microdissected followed by amplification of
GNAQ
exon 4 and 5,
GNA11
exon 4 and 5, and finally analyzed by Sanger sequencing. A total of 64.4
GNA11/GNAQ
mutations, including ten yet unreported, were found. Two cases showed multiple mutations. Overall survival was significantly shorter in the uveal melanoma cohort with
GNAQ
exon 5 mutation. In concordance with previous studies, high frequencies of mutations in
GNAQ
or
GNA11
were detected. Interestingly, in about 20% of UM, not yet reported mutations in
GNAQ
or
GNA11
were seen. Rarely, uveal melanoma may harbor double mutations in
GNAQ
and/or
GNA11
. Recent data imply, that implementation of
GNAQ/GNA11
mutation analysis in routine diagnostic procedures might be helpful for future therapeutic decisions.</description><identifier>ISSN: 1219-4956</identifier><identifier>EISSN: 1532-2807</identifier><identifier>DOI: 10.1007/s12253-017-0371-7</identifier><identifier>PMID: 29209985</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Adult ; Aged ; Aged, 80 and over ; Biomarkers, Tumor - genetics ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; DNA Mutational Analysis ; Female ; Follow-Up Studies ; Gene Expression Regulation, Neoplastic ; GTP-Binding Protein alpha Subunits - genetics ; GTP-Binding Protein alpha Subunits, Gq-G11 - genetics ; Humans ; Immunology ; Male ; Melanoma ; Melanoma - genetics ; Melanoma - pathology ; Middle Aged ; Mutation ; Oncology ; Original Article ; Paraffin ; Pathology ; Prognosis ; Skin cancer ; Survival Rate ; Uvea ; Uveal Neoplasms - genetics ; Uveal Neoplasms - pathology</subject><ispartof>Pathology oncology research, 2019-10, Vol.25 (4), p.1319-1325</ispartof><rights>Arányi Lajos Foundation 2017</rights><rights>Pathology & Oncology Research is a copyright of Springer, (2017). All Rights Reserved.</rights><rights>Copyright Springer Nature B.V. 2019</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c400t-35bccd090bea27c9d715a020782b34f39b3461c6e688c9c1dcb6e3839481f59c3</citedby><cites>FETCH-LOGICAL-c400t-35bccd090bea27c9d715a020782b34f39b3461c6e688c9c1dcb6e3839481f59c3</cites><orcidid>0000-0002-0282-7330</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s12253-017-0371-7$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s12253-017-0371-7$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27922,27923,41486,42555,51317</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29209985$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Schneider, Bjoern</creatorcontrib><creatorcontrib>Riedel, Katrin</creatorcontrib><creatorcontrib>Zhivov, Andrey</creatorcontrib><creatorcontrib>Huehns, Maja</creatorcontrib><creatorcontrib>Zettl, Heike</creatorcontrib><creatorcontrib>Guthoff, Rudolf F.</creatorcontrib><creatorcontrib>Jünemann, Anselm</creatorcontrib><creatorcontrib>Erbersdobler, Andreas</creatorcontrib><creatorcontrib>Zimpfer, Annette</creatorcontrib><title>Frequent and Yet Unreported GNAQ and GNA11 Mutations are Found in Uveal Melanomas</title><title>Pathology oncology research</title><addtitle>Pathol. Oncol. Res</addtitle><addtitle>Pathol Oncol Res</addtitle><description>Malignant melanoma of the uvea is the most common primary malignant tumor in the eye. We aimed to analyze
GNAQ
and
GNA11
mutations in uveal melanomas using formalin-fixed, paraffin-embedded material and correlate the results with clinicopathological parameters. Tumor tissue was microdissected followed by amplification of
GNAQ
exon 4 and 5,
GNA11
exon 4 and 5, and finally analyzed by Sanger sequencing. A total of 64.4
GNA11/GNAQ
mutations, including ten yet unreported, were found. Two cases showed multiple mutations. Overall survival was significantly shorter in the uveal melanoma cohort with
GNAQ
exon 5 mutation. In concordance with previous studies, high frequencies of mutations in
GNAQ
or
GNA11
were detected. Interestingly, in about 20% of UM, not yet reported mutations in
GNAQ
or
GNA11
were seen. Rarely, uveal melanoma may harbor double mutations in
GNAQ
and/or
GNA11
. Recent data imply, that implementation of
GNAQ/GNA11
mutation analysis in routine diagnostic procedures might be helpful for future therapeutic decisions.</description><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Biomarkers, Tumor - genetics</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Gene Expression Regulation, Neoplastic</subject><subject>GTP-Binding Protein alpha Subunits - genetics</subject><subject>GTP-Binding Protein alpha Subunits, Gq-G11 - genetics</subject><subject>Humans</subject><subject>Immunology</subject><subject>Male</subject><subject>Melanoma</subject><subject>Melanoma - genetics</subject><subject>Melanoma - pathology</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Oncology</subject><subject>Original Article</subject><subject>Paraffin</subject><subject>Pathology</subject><subject>Prognosis</subject><subject>Skin cancer</subject><subject>Survival Rate</subject><subject>Uvea</subject><subject>Uveal Neoplasms - genetics</subject><subject>Uveal Neoplasms - pathology</subject><issn>1219-4956</issn><issn>1532-2807</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp9kU9LAzEQxYMoWqsfwIsEvHhZnSTd_DmWYqvQKgV78BSy2alU2t2a7Ap-e1NbRQS9JEPm995MeIScMbhiAOo6Ms5zkQFTGQjFMrVHOiwXPOMa1H6qOTNZz-TyiBzH-AJJI408JEfccDBG5x0yHQZ8bbFqqKtK-oQNnVUB13VosKSj-_708z0VjNFJ27hmUVeRuoB0WLeps6jo7A3dkk5w6ap65eIJOZi7ZcTT3d0ls-HN4-A2Gz-M7gb9ceZ7AE0m8sL7EgwU6LjyplQsd8BBaV6I3lyYdErmJUqtvfGs9IVEoYXpaTbPjRddcrn1XYc6_SA2drWIHpdpDazbaJlRGwcwPKEXv9CXug1V2s5yAdpILRT8RyUvrpOdkoliW8qHOsaAc7sOi5UL75aB3aRit6nYlIrdpGJV0pzvnNtiheW34iuGBPAtEFOresbwY_Sfrh-e65ON</recordid><startdate>20191001</startdate><enddate>20191001</enddate><creator>Schneider, Bjoern</creator><creator>Riedel, Katrin</creator><creator>Zhivov, Andrey</creator><creator>Huehns, Maja</creator><creator>Zettl, Heike</creator><creator>Guthoff, Rudolf F.</creator><creator>Jünemann, Anselm</creator><creator>Erbersdobler, Andreas</creator><creator>Zimpfer, Annette</creator><general>Springer Netherlands</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>7RV</scope><scope>7T5</scope><scope>7TM</scope><scope>7TO</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</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>H94</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-0282-7330</orcidid></search><sort><creationdate>20191001</creationdate><title>Frequent and Yet Unreported GNAQ and GNA11 Mutations are Found in Uveal Melanomas</title><author>Schneider, Bjoern ; 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Oncol. Res</stitle><addtitle>Pathol Oncol Res</addtitle><date>2019-10-01</date><risdate>2019</risdate><volume>25</volume><issue>4</issue><spage>1319</spage><epage>1325</epage><pages>1319-1325</pages><issn>1219-4956</issn><eissn>1532-2807</eissn><abstract>Malignant melanoma of the uvea is the most common primary malignant tumor in the eye. We aimed to analyze
GNAQ
and
GNA11
mutations in uveal melanomas using formalin-fixed, paraffin-embedded material and correlate the results with clinicopathological parameters. Tumor tissue was microdissected followed by amplification of
GNAQ
exon 4 and 5,
GNA11
exon 4 and 5, and finally analyzed by Sanger sequencing. A total of 64.4
GNA11/GNAQ
mutations, including ten yet unreported, were found. Two cases showed multiple mutations. Overall survival was significantly shorter in the uveal melanoma cohort with
GNAQ
exon 5 mutation. In concordance with previous studies, high frequencies of mutations in
GNAQ
or
GNA11
were detected. Interestingly, in about 20% of UM, not yet reported mutations in
GNAQ
or
GNA11
were seen. Rarely, uveal melanoma may harbor double mutations in
GNAQ
and/or
GNA11
. Recent data imply, that implementation of
GNAQ/GNA11
mutation analysis in routine diagnostic procedures might be helpful for future therapeutic decisions.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>29209985</pmid><doi>10.1007/s12253-017-0371-7</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0002-0282-7330</orcidid></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1219-4956 |
| ispartof | Pathology oncology research, 2019-10, Vol.25 (4), p.1319-1325 |
| issn | 1219-4956 1532-2807 |
| language | eng |
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| source | MEDLINE; SpringerLink_现刊 |
| subjects | Adult Aged Aged, 80 and over Biomarkers, Tumor - genetics Biomedical and Life Sciences Biomedicine Cancer Research DNA Mutational Analysis Female Follow-Up Studies Gene Expression Regulation, Neoplastic GTP-Binding Protein alpha Subunits - genetics GTP-Binding Protein alpha Subunits, Gq-G11 - genetics Humans Immunology Male Melanoma Melanoma - genetics Melanoma - pathology Middle Aged Mutation Oncology Original Article Paraffin Pathology Prognosis Skin cancer Survival Rate Uvea Uveal Neoplasms - genetics Uveal Neoplasms - pathology |
| title | Frequent and Yet Unreported GNAQ and GNA11 Mutations are Found in Uveal Melanomas |
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