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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Metastatic Pheochromocytoma/Paraganglioma Related to Primary Tumor Development in Childhood or Adolescence: Significant Link to <italic>SDHB</italic> Mutations</title><author><name sortKey="King, Kathryn S" sort="King, Kathryn S" uniqKey="King K" first="Kathryn S." last="King">Kathryn S. King</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Prodanov, Tamara" sort="Prodanov, Tamara" uniqKey="Prodanov T" first="Tamara" last="Prodanov">Tamara Prodanov</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Kantorovich, Vitaly" sort="Kantorovich, Vitaly" uniqKey="Kantorovich V" first="Vitaly" last="Kantorovich">Vitaly Kantorovich</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Fojo, Tito" sort="Fojo, Tito" uniqKey="Fojo T" first="Tito" last="Fojo">Tito Fojo</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Hewitt, Jacqueline K" sort="Hewitt, Jacqueline K" uniqKey="Hewitt J" first="Jacqueline K." last="Hewitt">Jacqueline K. Hewitt</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Zacharin, Margaret" sort="Zacharin, Margaret" uniqKey="Zacharin M" first="Margaret" last="Zacharin">Margaret Zacharin</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Wesley, Robert" sort="Wesley, Robert" uniqKey="Wesley R" first="Robert" last="Wesley">Robert Wesley</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Lodish, Maya" sort="Lodish, Maya" uniqKey="Lodish M" first="Maya" last="Lodish">Maya Lodish</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Raygada, Margarita" sort="Raygada, Margarita" uniqKey="Raygada M" first="Margarita" last="Raygada">Margarita Raygada</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Gimenez Roqueplo, Anne Paule" sort="Gimenez Roqueplo, Anne Paule" uniqKey="Gimenez Roqueplo A" first="Anne-Paule" last="Gimenez-Roqueplo">Anne-Paule Gimenez-Roqueplo</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Mccormack, Shana" sort="Mccormack, Shana" uniqKey="Mccormack S" first="Shana" last="Mccormack">Shana Mccormack</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Eisenhofer, Graeme" sort="Eisenhofer, Graeme" uniqKey="Eisenhofer G" first="Graeme" last="Eisenhofer">Graeme Eisenhofer</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Milosevic, Dragana" sort="Milosevic, Dragana" uniqKey="Milosevic D" first="Dragana" last="Milosevic">Dragana Milosevic</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Kebebew, Electron" sort="Kebebew, Electron" uniqKey="Kebebew E" first="Electron" last="Kebebew">Electron Kebebew</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Stratakis, Constantine A" sort="Stratakis, Constantine A" uniqKey="Stratakis C" first="Constantine A." last="Stratakis">Constantine A. Stratakis</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Pacak, Karel" sort="Pacak, Karel" uniqKey="Pacak K" first="Karel" last="Pacak">Karel Pacak</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21969497</idno><idno type="pmc">3208535</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3208535</idno><idno type="RBID">PMC:3208535</idno><idno type="doi">10.1200/JCO.2011.34.6353</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">001939</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001939</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Metastatic Pheochromocytoma/Paraganglioma Related to Primary Tumor Development in Childhood or Adolescence: Significant Link to <italic>SDHB</italic> Mutations</title><author><name sortKey="King, Kathryn S" sort="King, Kathryn S" uniqKey="King K" first="Kathryn S." last="King">Kathryn S. King</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Prodanov, Tamara" sort="Prodanov, Tamara" uniqKey="Prodanov T" first="Tamara" last="Prodanov">Tamara Prodanov</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Kantorovich, Vitaly" sort="Kantorovich, Vitaly" uniqKey="Kantorovich V" first="Vitaly" last="Kantorovich">Vitaly Kantorovich</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Fojo, Tito" sort="Fojo, Tito" uniqKey="Fojo T" first="Tito" last="Fojo">Tito Fojo</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Hewitt, Jacqueline K" sort="Hewitt, Jacqueline K" uniqKey="Hewitt J" first="Jacqueline K." last="Hewitt">Jacqueline K. Hewitt</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Zacharin, Margaret" sort="Zacharin, Margaret" uniqKey="Zacharin M" first="Margaret" last="Zacharin">Margaret Zacharin</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Wesley, Robert" sort="Wesley, Robert" uniqKey="Wesley R" first="Robert" last="Wesley">Robert Wesley</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Lodish, Maya" sort="Lodish, Maya" uniqKey="Lodish M" first="Maya" last="Lodish">Maya Lodish</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Raygada, Margarita" sort="Raygada, Margarita" uniqKey="Raygada M" first="Margarita" last="Raygada">Margarita Raygada</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Gimenez Roqueplo, Anne Paule" sort="Gimenez Roqueplo, Anne Paule" uniqKey="Gimenez Roqueplo A" first="Anne-Paule" last="Gimenez-Roqueplo">Anne-Paule Gimenez-Roqueplo</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Mccormack, Shana" sort="Mccormack, Shana" uniqKey="Mccormack S" first="Shana" last="Mccormack">Shana Mccormack</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Eisenhofer, Graeme" sort="Eisenhofer, Graeme" uniqKey="Eisenhofer G" first="Graeme" last="Eisenhofer">Graeme Eisenhofer</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Milosevic, Dragana" sort="Milosevic, Dragana" uniqKey="Milosevic D" first="Dragana" last="Milosevic">Dragana Milosevic</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Kebebew, Electron" sort="Kebebew, Electron" uniqKey="Kebebew E" first="Electron" last="Kebebew">Electron Kebebew</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Stratakis, Constantine A" sort="Stratakis, Constantine A" uniqKey="Stratakis C" first="Constantine A." last="Stratakis">Constantine A. Stratakis</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author><author><name sortKey="Pacak, Karel" sort="Pacak, Karel" uniqKey="Pacak K" first="Karel" last="Pacak">Karel Pacak</name><affiliation><nlm:aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</nlm:aff></affiliation></author></analytic><series><title level="j">Journal of Clinical Oncology</title><idno type="ISSN">0732-183X</idno><idno type="eISSN">1527-7755</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Purpose</title><p>To present data on the high rate of <italic>SDHB</italic> mutations in patients with metastatic pheochromocytoma/paraganglioma whose initial tumor presentation began in childhood or adolescence.</p></sec><sec><title>Patients and Methods</title><p>From 2000 to 2010, 263 patients with pheochromocytoma/paraganglioma were evaluated through the National Institutes of Health (NIH), Bethesda, MD. Of the 263 patients, 125 patients were found to have metastatic disease; of these 125 patients, 32 patients presented with a tumor before 20 years of age. An additional 17 patients presented with a tumor before 20 years of age but demonstrated no development of metastatic disease. Genetic testing for mutations in the <italic>VHL</italic>, <italic>MEN</italic>, and <italic>SDHB/C/D</italic> genes was performed on patients without previously identified genetic mutations.</p></sec><sec><title>Results</title><p>Of the 32 patients who presented with metastatic disease and had their primary tumor in childhood or adolescence, sequence analysis of germline DNA showed <italic>SDHB</italic> mutations in 23 patients (71.9%), <italic>SDHD</italic> mutations in three patients (9.4%), <italic>VHL</italic> mutations in two patients (6.3%), and an absence of a known mutation in four patients (12.5%). The majority of these 32 patients (78.1%) presented with primary tumors in an extra-adrenal location.</p></sec><sec><title>Conclusion</title><p>The majority of patients with metastatic pheochromocytoma/paraganglioma who presented with a primary tumor in childhood/adolescence had primary extra-adrenal tumors and harbored <italic>SDHB</italic> mutations. Except for primary tumors located in the head and neck where <italic>SDHD</italic> genetic testing is advised, we recommend that patients who present with metastatic pheochromocytoma/paraganglioma with primary tumor development in childhood or adolescence undergo <italic>SDHB</italic> genetic testing before they undergo testing for other gene mutations, unless clinical presentation or family history suggests a different mutation.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Clin Oncol</journal-id><journal-id journal-id-type="hwp">jco</journal-id><journal-id journal-id-type="pmc">jco</journal-id><journal-id journal-id-type="publisher-id">JCO</journal-id><journal-title-group><journal-title>Journal of Clinical Oncology</journal-title></journal-title-group><issn pub-type="ppub">0732-183X</issn><issn pub-type="epub">1527-7755</issn><publisher><publisher-name>American Society of Clinical Oncology</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">21969497</article-id><article-id pub-id-type="pmc">3208535</article-id><article-id pub-id-type="publisher-id">46353</article-id><article-id pub-id-type="doi">10.1200/JCO.2011.34.6353</article-id><article-categories><subj-group subj-group-type="hwp-journal-coll"><subject>Endo1</subject><subject>Pedi21</subject></subj-group><subj-group subj-group-type="heading"><subject>Original Reports</subject><subj-group><subject>Pediatric Oncology</subject></subj-group></subj-group></article-categories><title-group><article-title>Metastatic Pheochromocytoma/Paraganglioma Related to Primary Tumor Development in Childhood or Adolescence: Significant Link to <italic>SDHB</italic> Mutations</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>King</surname><given-names>Kathryn S.</given-names></name><xref ref-type="aff" rid="aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Prodanov</surname><given-names>Tamara</given-names></name><xref ref-type="aff" rid="aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Kantorovich</surname><given-names>Vitaly</given-names></name><xref ref-type="aff" rid="aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Fojo</surname><given-names>Tito</given-names></name><xref ref-type="aff" rid="aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Hewitt</surname><given-names>Jacqueline K.</given-names></name><xref ref-type="aff" rid="aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Zacharin</surname><given-names>Margaret</given-names></name><xref ref-type="aff" rid="aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Wesley</surname><given-names>Robert</given-names></name><xref ref-type="aff" rid="aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Lodish</surname><given-names>Maya</given-names></name><xref ref-type="aff" rid="aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Raygada</surname><given-names>Margarita</given-names></name><xref ref-type="aff" rid="aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Gimenez-Roqueplo</surname><given-names>Anne-Paule</given-names></name><xref ref-type="aff" rid="aff1"></xref></contrib><contrib contrib-type="author"><name><surname>McCormack</surname><given-names>Shana</given-names></name><xref ref-type="aff" rid="aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Eisenhofer</surname><given-names>Graeme</given-names></name><xref ref-type="aff" rid="aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Milosevic</surname><given-names>Dragana</given-names></name><xref ref-type="aff" rid="aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Kebebew</surname><given-names>Electron</given-names></name><xref ref-type="aff" rid="aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Stratakis</surname><given-names>Constantine A.</given-names></name><xref ref-type="aff" rid="aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Pacak</surname><given-names>Karel</given-names></name><xref ref-type="aff" rid="aff1"></xref><xref ref-type="corresp" rid="cor1"></xref></contrib><aff id="aff1">Kathryn S. King, Tamara Prodanov, Maya Lodish, Margarita Raygada, Constantine A. Stratakis, and Karel Pacak, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Tito Fojo and Electron Kebebew, National Cancer Institute, National Institutes of Health; Robert Wesley, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Vitaly Kantorovich, University of Arkansas for Medical Sciences, Little Rock, AR; Jacqueline K. Hewitt and Margaret Zacharin, Royal Children's Hospital Melbourne, Parkville, Australia; Anne-Paule Gimenez-Roqueplo, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Européen Georges Pompidou; and Université Paris Descartes, Paris, France; Shana McCormack, Children's Hospital Boston, Boston, MA; Graeme Eisenhofer, University of Dresden, Dresden, Germany; and Dragana Milosevic, Mayo Clinic, Rochester, MN.</aff></contrib-group><author-notes><corresp id="cor1">Corresponding author: Karel Pacak, MD, PhD, DSc, Section on Medical Neuroendocrinology, Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bldg 10, Clinical Research Center, 1-E, Rm 1-3140, 10 Center Dr, MSC-1109, Bethesda, MD 20892-1109; e-mail: <email>karel@mail.nih.gov</email>.</corresp><fn fn-type="equal"><p>Both K.S.K and T.P. contributed equally to this work.</p></fn></author-notes><pub-date pub-type="ppub"><day>1</day><month>11</month><year>2011</year></pub-date><pub-date pub-type="epub"><day>3</day><month>10</month><year>2011</year></pub-date><pub-date pub-type="pmc-release"><day>1</day><month>11</month><year>2012</year></pub-date><pmc-comment> PMC Release delay is 12 months and 0 days and was based on the
<volume>29</volume><issue>31</issue><fpage>4137</fpage><lpage>4142</lpage><history><date date-type="received"><day>7</day><month>1</month><year>2011</year></date><date date-type="accepted"><day>4</day><month>8</month><year>2011</year></date></history><permissions><copyright-statement>© 2011 by American Society of Clinical Oncology</copyright-statement><copyright-year>2011</copyright-year></permissions><self-uri xlink:title="pdf" xlink:type="simple" xlink:href="zlj03111004137.pdf"></self-uri><abstract><sec><title>Purpose</title><p>To present data on the high rate of <italic>SDHB</italic> mutations in patients with metastatic pheochromocytoma/paraganglioma whose initial tumor presentation began in childhood or adolescence.</p></sec><sec><title>Patients and Methods</title><p>From 2000 to 2010, 263 patients with pheochromocytoma/paraganglioma were evaluated through the National Institutes of Health (NIH), Bethesda, MD. Of the 263 patients, 125 patients were found to have metastatic disease; of these 125 patients, 32 patients presented with a tumor before 20 years of age. An additional 17 patients presented with a tumor before 20 years of age but demonstrated no development of metastatic disease. Genetic testing for mutations in the <italic>VHL</italic>, <italic>MEN</italic>, and <italic>SDHB/C/D</italic> genes was performed on patients without previously identified genetic mutations.</p></sec><sec><title>Results</title><p>Of the 32 patients who presented with metastatic disease and had their primary tumor in childhood or adolescence, sequence analysis of germline DNA showed <italic>SDHB</italic> mutations in 23 patients (71.9%), <italic>SDHD</italic> mutations in three patients (9.4%), <italic>VHL</italic> mutations in two patients (6.3%), and an absence of a known mutation in four patients (12.5%). The majority of these 32 patients (78.1%) presented with primary tumors in an extra-adrenal location.</p></sec><sec><title>Conclusion</title><p>The majority of patients with metastatic pheochromocytoma/paraganglioma who presented with a primary tumor in childhood/adolescence had primary extra-adrenal tumors and harbored <italic>SDHB</italic> mutations. Except for primary tumors located in the head and neck where <italic>SDHD</italic> genetic testing is advised, we recommend that patients who present with metastatic pheochromocytoma/paraganglioma with primary tumor development in childhood or adolescence undergo <italic>SDHB</italic> genetic testing before they undergo testing for other gene mutations, unless clinical presentation or family history suggests a different mutation.</p></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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