Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.
Identifieur interne : 000A14 ( Main/Curation ); 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
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pubmed:28229225Le document en format XML
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</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>
</record>
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