Familial hematological malignancies: new IDH2 mutation
Isocitrate dehydrogenase IDH 1 and IDH 2 mutations were reported in several cancer forms, especially in hematological malignancies, but were never been investigated in familial aggregation. The aim of this study is to determine whether germline isocitrate dehydrogenase genes mutations are involved....
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| Veröffentlicht in: | Annals of hematology 2016-12, Vol.95 (12), p.1943-1947 |
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| creator | Hamadou, Walid-Sabri Bourdon, Violaine Létard, Sébastien Brenet, Fabienne Laarif, Sofien Besbes, Sawsen Paci, Angelo David, Muriel Penard-Lacronique, Virginie Youssef, Yosra Ben Laatiri, Mohamed-Adnène Eisinger, François Mari, Véronique Gesta, Paul Dreyfus, Hélène Bonadona, Valérie Dugast, Catherine Zattara, Hélène Faivre, Laurence Noguchi, Testsuro Khélif, Abderrahim Salem, Chaker Ben Dubreuil, Patrice Sobol, Hagay Soua, Zohra |
| description | Isocitrate dehydrogenase
IDH 1
and
IDH 2
mutations were reported in several cancer forms, especially in hematological malignancies, but were never been investigated in familial aggregation. The aim of this study is to determine whether germline isocitrate dehydrogenase genes mutations are involved.
We targeted
IDH1
and
IDH2
genes in 104 familial cases belonging to Tunisian and French populations, including several forms of hematological malignancies and cosegregated solid tumors.
We report one
IDH1
variant: c.315 G>T, p.Gly105Gly in 15 % of cases, which was assigned to the worst outcome in several studies. Three
IDH2
variants were found, among them, one intronic substitution c.543+45 G>A (rs142033117) and two new variants not previously described: c.389 A>T, p.Lys130Met and c.414 T>C, p.Thr138Thr. The p.Lys130Met was found in one case diagnosed with Waldenstrom’s disease with familial history of cancer. The enrolled
in silico
analysis, the functional study, and the absence of this variant in control population strengthen the hypothesis of its deleterious effect.
From an extended number of candidate genes analyzed in familial hematological malignancies,
IDH2
might be considerably involved since we reported a potential damaging effect. |
| doi_str_mv | 10.1007/s00277-016-2813-9 |
| format | Article |
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IDH 1
and
IDH 2
mutations were reported in several cancer forms, especially in hematological malignancies, but were never been investigated in familial aggregation. The aim of this study is to determine whether germline isocitrate dehydrogenase genes mutations are involved.
We targeted
IDH1
and
IDH2
genes in 104 familial cases belonging to Tunisian and French populations, including several forms of hematological malignancies and cosegregated solid tumors.
We report one
IDH1
variant: c.315 G>T, p.Gly105Gly in 15 % of cases, which was assigned to the worst outcome in several studies. Three
IDH2
variants were found, among them, one intronic substitution c.543+45 G>A (rs142033117) and two new variants not previously described: c.389 A>T, p.Lys130Met and c.414 T>C, p.Thr138Thr. The p.Lys130Met was found in one case diagnosed with Waldenstrom’s disease with familial history of cancer. The enrolled
in silico
analysis, the functional study, and the absence of this variant in control population strengthen the hypothesis of its deleterious effect.
From an extended number of candidate genes analyzed in familial hematological malignancies,
IDH2
might be considerably involved since we reported a potential damaging effect.</description><identifier>ISSN: 0939-5555</identifier><identifier>EISSN: 1432-0584</identifier><identifier>DOI: 10.1007/s00277-016-2813-9</identifier><identifier>PMID: 27591990</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Adult ; Aged ; Female ; Hematologic Neoplasms - diagnosis ; Hematologic Neoplasms - genetics ; Hematology ; Humans ; Isocitrate Dehydrogenase - genetics ; Male ; Medicine ; Medicine & Public Health ; Middle Aged ; Mutation - genetics ; Oncology ; Original Article</subject><ispartof>Annals of hematology, 2016-12, Vol.95 (12), p.1943-1947</ispartof><rights>Springer-Verlag Berlin Heidelberg 2016</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c372t-ef5bd9251a901b137a99162fe8a1f05d77007a07ffe72428c97c976c343bafe03</citedby><cites>FETCH-LOGICAL-c372t-ef5bd9251a901b137a99162fe8a1f05d77007a07ffe72428c97c976c343bafe03</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/s00277-016-2813-9$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00277-016-2813-9$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27591990$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hamadou, Walid-Sabri</creatorcontrib><creatorcontrib>Bourdon, Violaine</creatorcontrib><creatorcontrib>Létard, Sébastien</creatorcontrib><creatorcontrib>Brenet, Fabienne</creatorcontrib><creatorcontrib>Laarif, Sofien</creatorcontrib><creatorcontrib>Besbes, Sawsen</creatorcontrib><creatorcontrib>Paci, Angelo</creatorcontrib><creatorcontrib>David, Muriel</creatorcontrib><creatorcontrib>Penard-Lacronique, Virginie</creatorcontrib><creatorcontrib>Youssef, Yosra Ben</creatorcontrib><creatorcontrib>Laatiri, Mohamed-Adnène</creatorcontrib><creatorcontrib>Eisinger, François</creatorcontrib><creatorcontrib>Mari, Véronique</creatorcontrib><creatorcontrib>Gesta, Paul</creatorcontrib><creatorcontrib>Dreyfus, Hélène</creatorcontrib><creatorcontrib>Bonadona, Valérie</creatorcontrib><creatorcontrib>Dugast, Catherine</creatorcontrib><creatorcontrib>Zattara, Hélène</creatorcontrib><creatorcontrib>Faivre, Laurence</creatorcontrib><creatorcontrib>Noguchi, Testsuro</creatorcontrib><creatorcontrib>Khélif, Abderrahim</creatorcontrib><creatorcontrib>Salem, Chaker Ben</creatorcontrib><creatorcontrib>Dubreuil, Patrice</creatorcontrib><creatorcontrib>Sobol, Hagay</creatorcontrib><creatorcontrib>Soua, Zohra</creatorcontrib><title>Familial hematological malignancies: new IDH2 mutation</title><title>Annals of hematology</title><addtitle>Ann Hematol</addtitle><addtitle>Ann Hematol</addtitle><description>Isocitrate dehydrogenase
IDH 1
and
IDH 2
mutations were reported in several cancer forms, especially in hematological malignancies, but were never been investigated in familial aggregation. The aim of this study is to determine whether germline isocitrate dehydrogenase genes mutations are involved.
We targeted
IDH1
and
IDH2
genes in 104 familial cases belonging to Tunisian and French populations, including several forms of hematological malignancies and cosegregated solid tumors.
We report one
IDH1
variant: c.315 G>T, p.Gly105Gly in 15 % of cases, which was assigned to the worst outcome in several studies. Three
IDH2
variants were found, among them, one intronic substitution c.543+45 G>A (rs142033117) and two new variants not previously described: c.389 A>T, p.Lys130Met and c.414 T>C, p.Thr138Thr. The p.Lys130Met was found in one case diagnosed with Waldenstrom’s disease with familial history of cancer. The enrolled
in silico
analysis, the functional study, and the absence of this variant in control population strengthen the hypothesis of its deleterious effect.
From an extended number of candidate genes analyzed in familial hematological malignancies,
IDH2
might be considerably involved since we reported a potential damaging effect.</description><subject>Adult</subject><subject>Aged</subject><subject>Female</subject><subject>Hematologic Neoplasms - diagnosis</subject><subject>Hematologic Neoplasms - genetics</subject><subject>Hematology</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 - genetics</subject><subject>Oncology</subject><subject>Original Article</subject><issn>0939-5555</issn><issn>1432-0584</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp1kEFLwzAUx4Mobk4_gBcpePESfUmapvEm0-lg4EXPIe2SmdE2s2kRv70pnSKCIRDC--Wf934InRO4JgDiJgBQITCQDNOcMCwP0JSkjGLgeXqIpiCZxDyuCToJYQtAaJ7SYzShgksiJUxRttC1q5yukjdT685XfuPKeKt15TaNbkpnwm3SmI9kef9Ek7rvdOd8c4qOrK6COdufM_S6eHiZP-HV8-NyfrfCJRO0w8byYi0pJ1oCKQgTWkqSUWtyTSzwtRBxDA3CWiNoSvNSirizkqWs0NYAm6GrMXfX-vfehE7VLpSmqnRjfB8UyVkm4uxcRvTyD7r1fdvE7gaKpwJklkaKjFTZ-hBaY9WudbVuPxUBNUhVo1QVpapBqhqSL_bJfVGb9c-Lb4sRoCMQYqnZmPbX1_-mfgHXO396</recordid><startdate>20161201</startdate><enddate>20161201</enddate><creator>Hamadou, Walid-Sabri</creator><creator>Bourdon, Violaine</creator><creator>Létard, Sébastien</creator><creator>Brenet, Fabienne</creator><creator>Laarif, Sofien</creator><creator>Besbes, Sawsen</creator><creator>Paci, Angelo</creator><creator>David, Muriel</creator><creator>Penard-Lacronique, Virginie</creator><creator>Youssef, Yosra Ben</creator><creator>Laatiri, Mohamed-Adnène</creator><creator>Eisinger, François</creator><creator>Mari, Véronique</creator><creator>Gesta, Paul</creator><creator>Dreyfus, Hélène</creator><creator>Bonadona, Valérie</creator><creator>Dugast, Catherine</creator><creator>Zattara, Hélène</creator><creator>Faivre, Laurence</creator><creator>Noguchi, Testsuro</creator><creator>Khélif, Abderrahim</creator><creator>Salem, Chaker Ben</creator><creator>Dubreuil, Patrice</creator><creator>Sobol, Hagay</creator><creator>Soua, Zohra</creator><general>Springer Berlin Heidelberg</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>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</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>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope></search><sort><creationdate>20161201</creationdate><title>Familial hematological malignancies: new IDH2 mutation</title><author>Hamadou, Walid-Sabri ; Bourdon, Violaine ; Létard, Sébastien ; Brenet, Fabienne ; Laarif, Sofien ; Besbes, Sawsen ; Paci, Angelo ; David, Muriel ; Penard-Lacronique, Virginie ; Youssef, Yosra Ben ; Laatiri, Mohamed-Adnène ; Eisinger, François ; Mari, Véronique ; Gesta, Paul ; Dreyfus, Hélène ; Bonadona, Valérie ; Dugast, Catherine ; Zattara, Hélène ; Faivre, Laurence ; Noguchi, Testsuro ; Khélif, Abderrahim ; Salem, Chaker Ben ; Dubreuil, Patrice ; Sobol, Hagay ; Soua, Zohra</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c372t-ef5bd9251a901b137a99162fe8a1f05d77007a07ffe72428c97c976c343bafe03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Female</topic><topic>Hematologic Neoplasms - 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Academic</collection><jtitle>Annals of hematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hamadou, Walid-Sabri</au><au>Bourdon, Violaine</au><au>Létard, Sébastien</au><au>Brenet, Fabienne</au><au>Laarif, Sofien</au><au>Besbes, Sawsen</au><au>Paci, Angelo</au><au>David, Muriel</au><au>Penard-Lacronique, Virginie</au><au>Youssef, Yosra Ben</au><au>Laatiri, Mohamed-Adnène</au><au>Eisinger, François</au><au>Mari, Véronique</au><au>Gesta, Paul</au><au>Dreyfus, Hélène</au><au>Bonadona, Valérie</au><au>Dugast, Catherine</au><au>Zattara, Hélène</au><au>Faivre, Laurence</au><au>Noguchi, Testsuro</au><au>Khélif, Abderrahim</au><au>Salem, Chaker Ben</au><au>Dubreuil, Patrice</au><au>Sobol, Hagay</au><au>Soua, Zohra</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Familial hematological malignancies: new IDH2 mutation</atitle><jtitle>Annals of hematology</jtitle><stitle>Ann Hematol</stitle><addtitle>Ann Hematol</addtitle><date>2016-12-01</date><risdate>2016</risdate><volume>95</volume><issue>12</issue><spage>1943</spage><epage>1947</epage><pages>1943-1947</pages><issn>0939-5555</issn><eissn>1432-0584</eissn><abstract>Isocitrate dehydrogenase
IDH 1
and
IDH 2
mutations were reported in several cancer forms, especially in hematological malignancies, but were never been investigated in familial aggregation. The aim of this study is to determine whether germline isocitrate dehydrogenase genes mutations are involved.
We targeted
IDH1
and
IDH2
genes in 104 familial cases belonging to Tunisian and French populations, including several forms of hematological malignancies and cosegregated solid tumors.
We report one
IDH1
variant: c.315 G>T, p.Gly105Gly in 15 % of cases, which was assigned to the worst outcome in several studies. Three
IDH2
variants were found, among them, one intronic substitution c.543+45 G>A (rs142033117) and two new variants not previously described: c.389 A>T, p.Lys130Met and c.414 T>C, p.Thr138Thr. The p.Lys130Met was found in one case diagnosed with Waldenstrom’s disease with familial history of cancer. The enrolled
in silico
analysis, the functional study, and the absence of this variant in control population strengthen the hypothesis of its deleterious effect.
From an extended number of candidate genes analyzed in familial hematological malignancies,
IDH2
might be considerably involved since we reported a potential damaging effect.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>27591990</pmid><doi>10.1007/s00277-016-2813-9</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0939-5555 |
| ispartof | Annals of hematology, 2016-12, Vol.95 (12), p.1943-1947 |
| issn | 0939-5555 1432-0584 |
| language | eng |
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| source | MEDLINE; SpringerNature Journals |
| subjects | Adult Aged Female Hematologic Neoplasms - diagnosis Hematologic Neoplasms - genetics Hematology Humans Isocitrate Dehydrogenase - genetics Male Medicine Medicine & Public Health Middle Aged Mutation - genetics Oncology Original Article |
| title | Familial hematological malignancies: new IDH2 mutation |
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