Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.
Identifieur interne : 000848 ( PubMed/Corpus ); précédent : 000847; suivant : 000849Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.
Auteurs : Aurelie Maignan ; Carole Guerin ; Valentin Julliard ; Nunzia-Cinzia Paladino ; Edward Kim ; Philippe Roche ; Fréderic Castinetti ; Wassim Essamet ; Julien Mancini ; Alessio Imperiale ; Roderick Clifton-Bligh ; Pauline Romanet ; Anne Barlier ; Karel Pacak ; Fréderic Sebag ; David TaïebSource :
- 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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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.</title><author><name sortKey="Maignan, Aurelie" sort="Maignan, Aurelie" uniqKey="Maignan A" first="Aurelie" last="Maignan">Aurelie Maignan</name><affiliation><nlm:affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Guerin, Carole" sort="Guerin, Carole" uniqKey="Guerin C" first="Carole" last="Guerin">Carole Guerin</name><affiliation><nlm:affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Julliard, Valentin" sort="Julliard, Valentin" uniqKey="Julliard V" first="Valentin" last="Julliard">Valentin Julliard</name><affiliation><nlm:affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation></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><nlm:affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Kim, Edward" sort="Kim, Edward" uniqKey="Kim E" first="Edward" last="Kim">Edward Kim</name><affiliation><nlm:affiliation>Cancer Genetics, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Roche, Philippe" sort="Roche, Philippe" uniqKey="Roche P" first="Philippe" last="Roche">Philippe Roche</name><affiliation><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></affiliation></author><author><name sortKey="Castinetti, Frederic" sort="Castinetti, Frederic" uniqKey="Castinetti F" first="Fréderic" last="Castinetti">Fréderic Castinetti</name><affiliation><nlm:affiliation>Department of Endocrinology, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Essamet, Wassim" sort="Essamet, Wassim" uniqKey="Essamet W" first="Wassim" last="Essamet">Wassim Essamet</name><affiliation><nlm:affiliation>Department of Neuropathology, La Timone University Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Mancini, Julien" sort="Mancini, Julien" uniqKey="Mancini J" first="Julien" last="Mancini">Julien Mancini</name><affiliation><nlm:affiliation>UMR_S912, IRD, Aix Marseille Univ, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Imperiale, Alessio" sort="Imperiale, Alessio" uniqKey="Imperiale A" first="Alessio" last="Imperiale">Alessio Imperiale</name><affiliation><nlm:affiliation>ICube, UMR 7357 University of Strasbourg/CNRS and FMTS, Faculty of Medicine, Strasbourg, France.</nlm:affiliation></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><nlm:affiliation>Cancer Genetics, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Romanet, Pauline" sort="Romanet, Pauline" uniqKey="Romanet P" first="Pauline" last="Romanet">Pauline Romanet</name><affiliation><nlm:affiliation>Laboratory of Biochemistry and Molecular Biology, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Barlier, Anne" sort="Barlier, Anne" uniqKey="Barlier A" first="Anne" last="Barlier">Anne Barlier</name><affiliation><nlm:affiliation>Laboratory of Biochemistry and Molecular Biology, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Pacak, Karel" sort="Pacak, Karel" uniqKey="Pacak K" first="Karel" last="Pacak">Karel Pacak</name><affiliation><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></affiliation></author><author><name sortKey="Sebag, Frederic" sort="Sebag, Frederic" uniqKey="Sebag F" first="Fréderic" last="Sebag">Fréderic Sebag</name><affiliation><nlm:affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Taieb, David" sort="Taieb, David" uniqKey="Taieb D" first="David" last="Taïeb">David Taïeb</name><affiliation><nlm:affiliation>Department of Nuclear Medicine, La Timone University Hospital, APHM, CERIMED, Aix Marseille Univ, Marseille, France. david.taieb@ap-hm.fr.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28229225</idno><idno type="pmid">28229225</idno><idno type="doi">10.1007/s00423-017-1564-y</idno><idno type="wicri:Area/PubMed/Corpus">000848</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000848</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.</title><author><name sortKey="Maignan, Aurelie" sort="Maignan, Aurelie" uniqKey="Maignan A" first="Aurelie" last="Maignan">Aurelie Maignan</name><affiliation><nlm:affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Guerin, Carole" sort="Guerin, Carole" uniqKey="Guerin C" first="Carole" last="Guerin">Carole Guerin</name><affiliation><nlm:affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Julliard, Valentin" sort="Julliard, Valentin" uniqKey="Julliard V" first="Valentin" last="Julliard">Valentin Julliard</name><affiliation><nlm:affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation></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><nlm:affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Kim, Edward" sort="Kim, Edward" uniqKey="Kim E" first="Edward" last="Kim">Edward Kim</name><affiliation><nlm:affiliation>Cancer Genetics, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Roche, Philippe" sort="Roche, Philippe" uniqKey="Roche P" first="Philippe" last="Roche">Philippe Roche</name><affiliation><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></affiliation></author><author><name sortKey="Castinetti, Frederic" sort="Castinetti, Frederic" uniqKey="Castinetti F" first="Fréderic" last="Castinetti">Fréderic Castinetti</name><affiliation><nlm:affiliation>Department of Endocrinology, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Essamet, Wassim" sort="Essamet, Wassim" uniqKey="Essamet W" first="Wassim" last="Essamet">Wassim Essamet</name><affiliation><nlm:affiliation>Department of Neuropathology, La Timone University Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Mancini, Julien" sort="Mancini, Julien" uniqKey="Mancini J" first="Julien" last="Mancini">Julien Mancini</name><affiliation><nlm:affiliation>UMR_S912, IRD, Aix Marseille Univ, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Imperiale, Alessio" sort="Imperiale, Alessio" uniqKey="Imperiale A" first="Alessio" last="Imperiale">Alessio Imperiale</name><affiliation><nlm:affiliation>ICube, UMR 7357 University of Strasbourg/CNRS and FMTS, Faculty of Medicine, Strasbourg, France.</nlm:affiliation></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><nlm:affiliation>Cancer Genetics, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Romanet, Pauline" sort="Romanet, Pauline" uniqKey="Romanet P" first="Pauline" last="Romanet">Pauline Romanet</name><affiliation><nlm:affiliation>Laboratory of Biochemistry and Molecular Biology, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Barlier, Anne" sort="Barlier, Anne" uniqKey="Barlier A" first="Anne" last="Barlier">Anne Barlier</name><affiliation><nlm:affiliation>Laboratory of Biochemistry and Molecular Biology, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Pacak, Karel" sort="Pacak, Karel" uniqKey="Pacak K" first="Karel" last="Pacak">Karel Pacak</name><affiliation><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></affiliation></author><author><name sortKey="Sebag, Frederic" sort="Sebag, Frederic" uniqKey="Sebag F" first="Fréderic" last="Sebag">Fréderic Sebag</name><affiliation><nlm:affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Taieb, David" sort="Taieb, David" uniqKey="Taieb D" first="David" last="Taïeb">David Taïeb</name><affiliation><nlm:affiliation>Department of Nuclear Medicine, La Timone University Hospital, APHM, CERIMED, Aix Marseille Univ, Marseille, France. david.taieb@ap-hm.fr.</nlm:affiliation></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><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">28229225</PMID><DateCreated><Year>2017</Year><Month>02</Month><Day>23</Day></DateCreated><DateRevised><Year>2017</Year><Month>07</Month><Day>18</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1435-2451</ISSN><JournalIssue CitedMedium="Internet"><Volume>402</Volume><Issue>5</Issue><PubDate><Year>2017</Year><Month>Aug</Month></PubDate></JournalIssue><Title>Langenbeck's archives of surgery</Title><ISOAbbreviation>Langenbecks Arch Surg</ISOAbbreviation></Journal><ArticleTitle>Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.</ArticleTitle><Pagination><MedlinePgn>787-798</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1007/s00423-017-1564-y</ELocationID><Abstract><AbstractText Label="PURPOSE" NlmCategory="OBJECTIVE">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.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">From 2012 to 2016, 82 patients underwent a PHEO surgical resection. Sixteen were operated in the context of hereditary PHEO and were excluded from analysis. Among the 66 remaining cases, 48 were preoperatively screened for an SDHB mutation. In addition to imaging studies with specific radiopharmaceuticals ((123)I-MIBG or (18)F-FDOPA) for exclusion of multifocality/metastases, 36 patients underwent (18)F-FDG PET/CT.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">From the 48 genetically screened patients, genetic testing found a germline SDHB variant in two (4.2%) cases: a variant of unknown significance, exon 1, c.14T>G (p.Val5Gly), and a most likely pathogenic mutation, exon 5, c.440A>G (p.Tyr147Cys), according to in silico analysis. Structural and functional analyses of the protein predicted that p.Tyr147Cys mutant was pathogenic. Both tumors exhibited moderate (18)F-FDG PET uptake with similar uptake patterns to non-SDHB mutated PHEOs. The two patients underwent total laparoscopic adrenalectomies. Of the remaining patients, 44 underwent a laparoscopic adrenalectomy, and two had an open approach. Pathological analysis of the tumors from patients bearing two germline SDHB variants revealed a typical PHEO (PASS 0 and 2). Ex-vivo analyses (metabolomics, SDHB immunohistochemistry, loss of heterozygosity analysis) allowed a reclassification of the two SDHB variants as probably non-pathogenic variants.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">This study illustrates that SDHx mutational analysis can be misleading, even if structural and functional analyses are done. Surgeons should be aware of the difficulty of classifying new SDHB variants prior to implementing SDHB mutation status into a tailored surgical management strategy of a patient.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Maignan</LastName><ForeName>Aurelie</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Guerin</LastName><ForeName>Carole</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Julliard</LastName><ForeName>Valentin</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Paladino</LastName><ForeName>Nunzia-Cinzia</ForeName><Initials>NC</Initials><AffiliationInfo><Affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kim</LastName><ForeName>Edward</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Cancer Genetics, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Roche</LastName><ForeName>Philippe</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Integrative Structural & Chemical Biology (iSCB) & INT-3D Molecular Modeling Platform, Cancer Research Centre of Marseille, CNRS UMR7258, Aix Marseille Univ, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Castinetti</LastName><ForeName>Fréderic</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Endocrinology, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Essamet</LastName><ForeName>Wassim</ForeName><Initials>W</Initials><AffiliationInfo><Affiliation>Department of Neuropathology, La Timone University Hospital, APHM, Aix Marseille Univ, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mancini</LastName><ForeName>Julien</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>UMR_S912, IRD, Aix Marseille Univ, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Imperiale</LastName><ForeName>Alessio</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>ICube, UMR 7357 University of Strasbourg/CNRS and FMTS, Faculty of Medicine, Strasbourg, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Clifton-Bligh</LastName><ForeName>Roderick</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Cancer Genetics, Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, Sydney, New South Wales, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Romanet</LastName><ForeName>Pauline</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Laboratory of Biochemistry and Molecular Biology, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Barlier</LastName><ForeName>Anne</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Laboratory of Biochemistry and Molecular Biology, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pacak</LastName><ForeName>Karel</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sebag</LastName><ForeName>Fréderic</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Endocrine Surgery, Conception Hospital, APHM, Aix Marseille Univ, Marseille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Taïeb</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Nuclear Medicine, La Timone University Hospital, APHM, CERIMED, Aix Marseille Univ, Marseille, France. david.taieb@ap-hm.fr.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal 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PubStatus="received"><Year>2016</Year><Month>10</Month><Day>20</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2017</Year><Month>02</Month><Day>08</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>2</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>2</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>2</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28229225</ArticleId><ArticleId IdType="doi">10.1007/s00423-017-1564-y</ArticleId><ArticleId IdType="pii">10.1007/s00423-017-1564-y</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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