Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.
Identifieur interne : 000A14 ( Main/Exploration ); précédent : 000A13; suivant : 000A15Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.
Auteurs : Aurelie Maignan [France] ; Carole Guerin [France] ; Valentin Julliard [France] ; Nunzia-Cinzia Paladino [France] ; Edward Kim [Australie] ; Philippe Roche [France] ; Fréderic Castinetti [France] ; Wassim Essamet [France] ; Julien Mancini [France] ; Alessio Imperiale [France] ; Roderick Clifton-Bligh [Australie] ; Pauline Romanet [France] ; Anne Barlier [France] ; Karel Pacak [États-Unis] ; Fréderic Sebag [France] ; David Taïeb [France]Source :
- Langenbeck's archives of surgery [ 1435-2451 ] ; 2017.
Abstract
Succinate dehydrogenase B (SDHB) associated pheochromocytomas (PHEOs) are associated with a higher risk of tumor aggressiveness and malignancy. The aim of the present study was to evaluate (1) the frequency of germline SDHB mutations in apparently sporadic patients with PHEO who undergo preoperative genetic testing and (2) the ability to predict pathogenic mutations.
DOI: 10.1007/s00423-017-1564-y
PubMed: 28229225
Affiliations:
- Australie, France, États-Unis
- Alsace (région administrative), Grand Est, Maryland, Nouvelle-Galles du Sud, Provence-Alpes-Côte d'Azur
- Marseille, Strasbourg, Sydney
- Université de Sydney
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type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Sebag, Frederic" sort="Sebag, Frederic" uniqKey="Sebag F" first="Fréderic" last="Sebag">Fréderic Sebag</name><affiliation wicri:level="3"><nlm:affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Taieb, David" sort="Taieb, David" uniqKey="Taieb D" first="David" last="Taïeb">David Taïeb</name><affiliation wicri:level="3"><nlm:affiliation>Department of Nuclear Medicine, La Timone University Hospital, APHM, CERIMED, Aix Marseille Univ, 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Conception Hospital, APHM, Aix Marseille Univ, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Guerin, Carole" sort="Guerin, Carole" uniqKey="Guerin C" first="Carole" last="Guerin">Carole Guerin</name><affiliation wicri:level="3"><nlm:affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Julliard, Valentin" sort="Julliard, Valentin" uniqKey="Julliard V" first="Valentin" last="Julliard">Valentin Julliard</name><affiliation wicri:level="3"><nlm:affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Paladino, Nunzia Cinzia" sort="Paladino, Nunzia Cinzia" uniqKey="Paladino N" first="Nunzia-Cinzia" last="Paladino">Nunzia-Cinzia Paladino</name><affiliation wicri:level="3"><nlm:affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Kim, Edward" sort="Kim, Edward" uniqKey="Kim E" first="Edward" last="Kim">Edward Kim</name><affiliation wicri:level="4"><nlm:affiliation>Cancer Genetics, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Cancer Genetics, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Roche, Philippe" sort="Roche, Philippe" uniqKey="Roche P" first="Philippe" last="Roche">Philippe Roche</name><affiliation wicri:level="3"><nlm:affiliation>Integrative Structural & Chemical Biology (iSCB) & INT-3D Molecular Modeling Platform, Cancer Research Centre of Marseille, CNRS UMR7258, Aix Marseille Univ, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Integrative Structural & Chemical Biology (iSCB) & INT-3D Molecular Modeling Platform, Cancer Research Centre of Marseille, CNRS UMR7258, Aix Marseille Univ, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Castinetti, Frederic" sort="Castinetti, Frederic" uniqKey="Castinetti F" first="Fréderic" last="Castinetti">Fréderic Castinetti</name><affiliation wicri:level="3"><nlm:affiliation>Department of Endocrinology, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Endocrinology, Conception Hospital, APHM, Aix Marseille Univ, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Essamet, Wassim" sort="Essamet, Wassim" uniqKey="Essamet W" first="Wassim" last="Essamet">Wassim Essamet</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neuropathology, La Timone University Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neuropathology, La Timone University Hospital, APHM, Aix Marseille Univ, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Mancini, Julien" sort="Mancini, Julien" uniqKey="Mancini J" first="Julien" last="Mancini">Julien Mancini</name><affiliation wicri:level="3"><nlm:affiliation>UMR_S912, IRD, Aix Marseille Univ, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMR_S912, IRD, Aix Marseille Univ, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Imperiale, Alessio" sort="Imperiale, Alessio" uniqKey="Imperiale A" first="Alessio" last="Imperiale">Alessio Imperiale</name><affiliation wicri:level="3"><nlm:affiliation>ICube, UMR 7357 University of Strasbourg/CNRS and FMTS, Faculty of Medicine, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>ICube, UMR 7357 University of Strasbourg/CNRS and FMTS, Faculty of Medicine, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Clifton Bligh, Roderick" sort="Clifton Bligh, Roderick" uniqKey="Clifton Bligh R" first="Roderick" last="Clifton-Bligh">Roderick Clifton-Bligh</name><affiliation wicri:level="4"><nlm:affiliation>Cancer Genetics, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Cancer Genetics, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Romanet, Pauline" sort="Romanet, Pauline" uniqKey="Romanet P" first="Pauline" last="Romanet">Pauline Romanet</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Biochemistry and Molecular Biology, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Biochemistry and Molecular Biology, Conception Hospital, APHM, Aix Marseille Univ, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Barlier, Anne" sort="Barlier, Anne" uniqKey="Barlier A" first="Anne" last="Barlier">Anne Barlier</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Biochemistry and Molecular Biology, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Biochemistry and Molecular Biology, Conception Hospital, APHM, Aix Marseille Univ, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Pacak, Karel" sort="Pacak, Karel" uniqKey="Pacak K" first="Karel" last="Pacak">Karel Pacak</name><affiliation wicri:level="2"><nlm:affiliation>Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Sebag, Frederic" sort="Sebag, Frederic" uniqKey="Sebag F" first="Fréderic" last="Sebag">Fréderic Sebag</name><affiliation wicri:level="3"><nlm:affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Taieb, David" sort="Taieb, David" uniqKey="Taieb D" first="David" last="Taïeb">David Taïeb</name><affiliation wicri:level="3"><nlm:affiliation>Department of Nuclear Medicine, La Timone University Hospital, APHM, CERIMED, Aix Marseille Univ, Marseille, France. david.taieb@ap-hm.fr.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Nuclear Medicine, La Timone University Hospital, APHM, CERIMED, Aix Marseille Univ, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author></analytic><series><title level="j">Langenbeck's archives of surgery</title><idno type="eISSN">1435-2451</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Succinate dehydrogenase B (SDHB) associated pheochromocytomas (PHEOs) are associated with a higher risk of tumor aggressiveness and malignancy. The aim of the present study was to evaluate (1) the frequency of germline SDHB mutations in apparently sporadic patients with PHEO who undergo preoperative genetic testing and (2) the ability to predict pathogenic mutations.</div></front></TEI><affiliations><list><country><li>Australie</li><li>France</li><li>États-Unis</li></country><region><li>Alsace (région administrative)</li><li>Grand Est</li><li>Maryland</li><li>Nouvelle-Galles du Sud</li><li>Provence-Alpes-Côte d'Azur</li></region><settlement><li>Marseille</li><li>Strasbourg</li><li>Sydney</li></settlement><orgName><li>Université de Sydney</li></orgName></list><tree><country name="France"><region name="Provence-Alpes-Côte d'Azur"><name sortKey="Maignan, Aurelie" sort="Maignan, Aurelie" uniqKey="Maignan A" first="Aurelie" last="Maignan">Aurelie Maignan</name></region><name sortKey="Barlier, Anne" sort="Barlier, Anne" uniqKey="Barlier A" first="Anne" last="Barlier">Anne Barlier</name><name sortKey="Castinetti, Frederic" sort="Castinetti, Frederic" uniqKey="Castinetti F" first="Fréderic" last="Castinetti">Fréderic Castinetti</name><name sortKey="Essamet, Wassim" sort="Essamet, Wassim" uniqKey="Essamet W" first="Wassim" last="Essamet">Wassim Essamet</name><name sortKey="Guerin, Carole" sort="Guerin, Carole" uniqKey="Guerin C" first="Carole" last="Guerin">Carole Guerin</name><name sortKey="Imperiale, Alessio" sort="Imperiale, Alessio" uniqKey="Imperiale A" first="Alessio" last="Imperiale">Alessio Imperiale</name><name sortKey="Julliard, Valentin" sort="Julliard, Valentin" uniqKey="Julliard V" first="Valentin" last="Julliard">Valentin Julliard</name><name sortKey="Mancini, Julien" sort="Mancini, Julien" uniqKey="Mancini J" first="Julien" last="Mancini">Julien Mancini</name><name sortKey="Paladino, Nunzia Cinzia" sort="Paladino, Nunzia Cinzia" uniqKey="Paladino N" first="Nunzia-Cinzia" last="Paladino">Nunzia-Cinzia Paladino</name><name sortKey="Roche, Philippe" sort="Roche, Philippe" uniqKey="Roche P" first="Philippe" last="Roche">Philippe Roche</name><name sortKey="Romanet, Pauline" sort="Romanet, Pauline" uniqKey="Romanet P" first="Pauline" last="Romanet">Pauline Romanet</name><name sortKey="Sebag, Frederic" sort="Sebag, Frederic" uniqKey="Sebag F" first="Fréderic" last="Sebag">Fréderic Sebag</name><name sortKey="Taieb, David" sort="Taieb, David" uniqKey="Taieb D" first="David" last="Taïeb">David Taïeb</name></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Kim, Edward" sort="Kim, Edward" uniqKey="Kim E" first="Edward" last="Kim">Edward Kim</name></region><name sortKey="Clifton Bligh, Roderick" sort="Clifton Bligh, Roderick" uniqKey="Clifton Bligh R" first="Roderick" last="Clifton-Bligh">Roderick Clifton-Bligh</name></country><country name="États-Unis"><region name="Maryland"><name sortKey="Pacak, Karel" sort="Pacak, Karel" uniqKey="Pacak K" first="Karel" last="Pacak">Karel Pacak</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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