AustralieFrV1, Main, Exploration, bibRecord, 006923

Metastatic Pheochromocytoma/Paraganglioma Related to Primary Tumor Development in Childhood or Adolescence: Significant Link to SDHB Mutations

Identifieur interne : 006923 ( Main/Exploration ); précédent : 006922; suivant : 006924

Metastatic Pheochromocytoma/Paraganglioma Related to Primary Tumor Development in Childhood or Adolescence: Significant Link to SDHB Mutations

Auteurs : Kathryn S. King [États-Unis] ; Tamara Prodanov [États-Unis] ; Vitaly Kantorovich [États-Unis] ; Tito Fojo [États-Unis] ; Jacqueline K. Hewitt [Australie] ; Margaret Zacharin [Australie] ; Robert Wesley [États-Unis] ; Maya Lodish ; Margarita Raygada [États-Unis] ; Anne-Paule Gimenez-Roqueplo [France] ; Shana Mccormack [États-Unis] ; Graeme Eisenhofer [Allemagne] ; Dragana Milosevic [États-Unis] ; Electron Kebebew [États-Unis] ; Constantine A. Stratakis [États-Unis] ; Karel Pacak [États-Unis]

Source :

Journal of clinical oncology [ 0732-183X ] ; 2011.

RBID : Pascal:11-0483185

Descripteurs français

Pascal (Inist)
- Métastase, Stade avancé, Primaire, Phéochromocytome, Tumorigénicité, Carcinogenèse, Paragangliome, Enfant, Mutation, Génétique, Cancérologie, Enfance.
Wicri :
- topic : Enfant, Génétique.

English descriptors

KwdEn :
- Advanced stage, Cancerology, Carcinogenesis, Child, Genetics, Metastasis, Mutation, Paraganglioma, Pheochromocytoma, Primary, Tumorigenicity.

Abstract

Purpose To present data on the high rate of SDHB mutations in patients with metastatic pheochromocytoma/paraganglioma whose initial tumor presentation began in childhood or adolescence. Patients and Methods 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 VHL, MEN, and SDHB/C/D genes was performed on patients without previously identified genetic mutations. Results Of the 32 patients who presented with metastatic disease and had their primary tumor in childhood or adolescence, sequence analysis of germline DNA showed SDHB mutations in 23 patients (71.9%), SDHD mutations in three patients (9.4%), VHL 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. Conclusion The majority of patients with metastatic pheochromocytoma/paraganglioma who presented with a primary tumor in childhood/adolescence had primary extra-adrenal tumors and harbored SDHB mutations. Except for primary tumors located in the head and neck where SDHD genetic testing is advised, we recommend that patients who present with metastatic pheochromocytoma/ paraganglioma with primary tumor development in childhood or adolescence undergo SDHB genetic testing before they undergo testing for other gene mutations, unless clinical presentation or family history suggests a different mutation.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3208535

Affiliations:

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Metastatic Pheochromocytoma/Paraganglioma Related to Primary Tumor Development in Childhood or Adolescence: Significant Link to SDHB 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 wicri:level="1"><inist:fA14 i1="01"><s1>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</s1>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Prodanov, Tamara" sort="Prodanov, Tamara" uniqKey="Prodanov T" first="Tamara" last="Prodanov">Tamara Prodanov</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</s1>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kantorovich, Vitaly" sort="Kantorovich, Vitaly" uniqKey="Kantorovich V" first="Vitaly" last="Kantorovich">Vitaly Kantorovich</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>University of Arkansas for Medical Sciences</s1>
<s2>Little Rock, AR</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>University of Arkansas for Medical Sciences</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fojo, Tito" sort="Fojo, Tito" uniqKey="Fojo T" first="Tito" last="Fojo">Tito Fojo</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>National Cancer Institute, National Institutes of Health</s1>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>National Cancer Institute, National Institutes of Health</wicri:noRegion>
</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 wicri:level="1"><inist:fA14 i1="05"><s1>Royal Children's Hospital Melbourne</s1>
<s2>Parkville</s2>
<s3>AUS</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Royal Children's Hospital Melbourne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zacharin, Margaret" sort="Zacharin, Margaret" uniqKey="Zacharin M" first="Margaret" last="Zacharin">Margaret Zacharin</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Royal Children's Hospital Melbourne</s1>
<s2>Parkville</s2>
<s3>AUS</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Royal Children's Hospital Melbourne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wesley, Robert" sort="Wesley, Robert" uniqKey="Wesley R" first="Robert" last="Wesley">Robert Wesley</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Warren Grant Magnuson Clinical Center, National Institutes of Health</s1>
<s2>Bethesda, MD</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Bethesda, MD</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lodish, Maya" sort="Lodish, Maya" uniqKey="Lodish M" first="Maya" last="Lodish">Maya Lodish</name>
</author>
<author><name sortKey="Raygada, Margarita" sort="Raygada, Margarita" uniqKey="Raygada M" first="Margarita" last="Raygada">Margarita Raygada</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</s1>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</wicri:noRegion>
</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 wicri:level="3"><inist:fA14 i1="06"><s1>Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Europeen Georges Pompidou</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="08"><s1>Universite Paris Descartes</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Mccormack, Shana" sort="Mccormack, Shana" uniqKey="Mccormack S" first="Shana" last="Mccormack">Shana Mccormack</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Children's Hospital Boston</s1>
<s2>Boston, MA</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Children's Hospital Boston</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Eisenhofer, Graeme" sort="Eisenhofer, Graeme" uniqKey="Eisenhofer G" first="Graeme" last="Eisenhofer">Graeme Eisenhofer</name>
<affiliation wicri:level="3"><inist:fA14 i1="10"><s1>University of Dresden</s1>
<s2>Dresden</s2>
<s3>DEU</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Saxe (Land)</region>
<region type="district" nuts="2">District de Dresde</region>
<settlement type="city">Dresde</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Milosevic, Dragana" sort="Milosevic, Dragana" uniqKey="Milosevic D" first="Dragana" last="Milosevic">Dragana Milosevic</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</s1>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Mayo Clinic</s1>
<s2>Rochester, MN</s2>
<s3>USA</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Mayo Clinic</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kebebew, Electron" sort="Kebebew, Electron" uniqKey="Kebebew E" first="Electron" last="Kebebew">Electron Kebebew</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>National Cancer Institute, National Institutes of Health</s1>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>National Cancer Institute, National Institutes of Health</wicri:noRegion>
</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 wicri:level="1"><inist:fA14 i1="01"><s1>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</s1>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pacak, Karel" sort="Pacak, Karel" uniqKey="Pacak K" first="Karel" last="Pacak">Karel Pacak</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</s1>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">11-0483185</idno>
<date when="2011">2011</date>
<idno type="stanalyst">PASCAL 11-0483185 INIST</idno>
<idno type="RBID">Pascal:11-0483185</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001849</idno>
<idno type="wicri:Area/PascalFrancis/Curation">004708</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001898</idno>
<idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">001898</idno>
<idno type="wicri:doubleKey">0732-183X:2011:King K:metastatic:pheochromocytoma:paraganglioma</idno>
<idno type="wicri:Area/Main/Merge">006D49</idno>
<idno type="wicri:source">PMC</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3208535</idno>
<idno type="RBID">PMC:3208535</idno>
<idno type="wicri:Area/Pmc/Corpus">001939</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001939</idno>
<idno type="wicri:Area/Pmc/Curation">001798</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001798</idno>
<idno type="wicri:Area/Pmc/Checkpoint">002241</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002241</idno>
<idno type="wicri:Area/Ncbi/Merge">000B85</idno>
<idno type="wicri:Area/Ncbi/Curation">000B85</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000B85</idno>
<idno type="wicri:doubleKey">0732-183X:2011:King K:metastatic:pheochromocytoma:paraganglioma</idno>
<idno type="wicri:Area/Main/Merge">006439</idno>
<idno type="wicri:Area/Main/Curation">006923</idno>
<idno type="wicri:Area/Main/Exploration">006923</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Metastatic Pheochromocytoma/Paraganglioma Related to Primary Tumor Development in Childhood or Adolescence: Significant Link to SDHB 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 wicri:level="1"><inist:fA14 i1="01"><s1>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</s1>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Prodanov, Tamara" sort="Prodanov, Tamara" uniqKey="Prodanov T" first="Tamara" last="Prodanov">Tamara Prodanov</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</s1>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kantorovich, Vitaly" sort="Kantorovich, Vitaly" uniqKey="Kantorovich V" first="Vitaly" last="Kantorovich">Vitaly Kantorovich</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>University of Arkansas for Medical Sciences</s1>
<s2>Little Rock, AR</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>University of Arkansas for Medical Sciences</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fojo, Tito" sort="Fojo, Tito" uniqKey="Fojo T" first="Tito" last="Fojo">Tito Fojo</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>National Cancer Institute, National Institutes of Health</s1>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>National Cancer Institute, National Institutes of Health</wicri:noRegion>
</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 wicri:level="1"><inist:fA14 i1="05"><s1>Royal Children's Hospital Melbourne</s1>
<s2>Parkville</s2>
<s3>AUS</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Royal Children's Hospital Melbourne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zacharin, Margaret" sort="Zacharin, Margaret" uniqKey="Zacharin M" first="Margaret" last="Zacharin">Margaret Zacharin</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Royal Children's Hospital Melbourne</s1>
<s2>Parkville</s2>
<s3>AUS</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Royal Children's Hospital Melbourne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wesley, Robert" sort="Wesley, Robert" uniqKey="Wesley R" first="Robert" last="Wesley">Robert Wesley</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Warren Grant Magnuson Clinical Center, National Institutes of Health</s1>
<s2>Bethesda, MD</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Bethesda, MD</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lodish, Maya" sort="Lodish, Maya" uniqKey="Lodish M" first="Maya" last="Lodish">Maya Lodish</name>
</author>
<author><name sortKey="Raygada, Margarita" sort="Raygada, Margarita" uniqKey="Raygada M" first="Margarita" last="Raygada">Margarita Raygada</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</s1>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</wicri:noRegion>
</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 wicri:level="3"><inist:fA14 i1="06"><s1>Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Institut National de la Sante et de la Recherche Medicale, Unite Mixte de Recherche 970, Paris-Cardiovascular Research Center at Hôpital Europeen Georges Pompidou</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="08"><s1>Universite Paris Descartes</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Mccormack, Shana" sort="Mccormack, Shana" uniqKey="Mccormack S" first="Shana" last="Mccormack">Shana Mccormack</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Children's Hospital Boston</s1>
<s2>Boston, MA</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Children's Hospital Boston</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Eisenhofer, Graeme" sort="Eisenhofer, Graeme" uniqKey="Eisenhofer G" first="Graeme" last="Eisenhofer">Graeme Eisenhofer</name>
<affiliation wicri:level="3"><inist:fA14 i1="10"><s1>University of Dresden</s1>
<s2>Dresden</s2>
<s3>DEU</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Saxe (Land)</region>
<region type="district" nuts="2">District de Dresde</region>
<settlement type="city">Dresde</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Milosevic, Dragana" sort="Milosevic, Dragana" uniqKey="Milosevic D" first="Dragana" last="Milosevic">Dragana Milosevic</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</s1>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Mayo Clinic</s1>
<s2>Rochester, MN</s2>
<s3>USA</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Mayo Clinic</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kebebew, Electron" sort="Kebebew, Electron" uniqKey="Kebebew E" first="Electron" last="Kebebew">Electron Kebebew</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>National Cancer Institute, National Institutes of Health</s1>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>National Cancer Institute, National Institutes of Health</wicri:noRegion>
</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 wicri:level="1"><inist:fA14 i1="01"><s1>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</s1>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pacak, Karel" sort="Pacak, Karel" uniqKey="Pacak K" first="Karel" last="Pacak">Karel Pacak</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</s1>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Journal of clinical oncology</title>
<title level="j" type="abbreviated">J. clin. oncol.</title>
<idno type="ISSN">0732-183X</idno>
<imprint><date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Journal of clinical oncology</title>
<title level="j" type="abbreviated">J. clin. oncol.</title>
<idno type="ISSN">0732-183X</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Advanced stage</term>
<term>Cancerology</term>
<term>Carcinogenesis</term>
<term>Child</term>
<term>Genetics</term>
<term>Metastasis</term>
<term>Mutation</term>
<term>Paraganglioma</term>
<term>Pheochromocytoma</term>
<term>Primary</term>
<term>Tumorigenicity</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Métastase</term>
<term>Stade avancé</term>
<term>Primaire</term>
<term>Phéochromocytome</term>
<term>Tumorigénicité</term>
<term>Carcinogenèse</term>
<term>Paragangliome</term>
<term>Enfant</term>
<term>Mutation</term>
<term>Génétique</term>
<term>Cancérologie</term>
<term>Enfance</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Enfant</term>
<term>Génétique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Purpose To present data on the high rate of SDHB mutations in patients with metastatic pheochromocytoma/paraganglioma whose initial tumor presentation began in childhood or adolescence. Patients and Methods 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 VHL, MEN, and SDHB/C/D genes was performed on patients without previously identified genetic mutations. Results Of the 32 patients who presented with metastatic disease and had their primary tumor in childhood or adolescence, sequence analysis of germline DNA showed SDHB mutations in 23 patients (71.9%), SDHD mutations in three patients (9.4%), VHL 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. Conclusion The majority of patients with metastatic pheochromocytoma/paraganglioma who presented with a primary tumor in childhood/adolescence had primary extra-adrenal tumors and harbored SDHB mutations. Except for primary tumors located in the head and neck where SDHD genetic testing is advised, we recommend that patients who present with metastatic pheochromocytoma/ paraganglioma with primary tumor development in childhood or adolescence undergo SDHB genetic testing before they undergo testing for other gene mutations, unless clinical presentation or family history suggests a different mutation.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>France</li>
<li>États-Unis</li>
</country>
<region><li>District de Dresde</li>
<li>Saxe (Land)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Dresde</li>
<li>Paris</li>
</settlement>
<orgName><li>Université Paris-Descartes</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Lodish, Maya" sort="Lodish, Maya" uniqKey="Lodish M" first="Maya" last="Lodish">Maya Lodish</name>
</noCountry>
<country name="États-Unis"><noRegion><name sortKey="King, Kathryn S" sort="King, Kathryn S" uniqKey="King K" first="Kathryn S." last="King">Kathryn S. King</name>
</noRegion>
<name sortKey="Fojo, Tito" sort="Fojo, Tito" uniqKey="Fojo T" first="Tito" last="Fojo">Tito Fojo</name>
<name sortKey="Kantorovich, Vitaly" sort="Kantorovich, Vitaly" uniqKey="Kantorovich V" first="Vitaly" last="Kantorovich">Vitaly Kantorovich</name>
<name sortKey="Kebebew, Electron" sort="Kebebew, Electron" uniqKey="Kebebew E" first="Electron" last="Kebebew">Electron Kebebew</name>
<name sortKey="Mccormack, Shana" sort="Mccormack, Shana" uniqKey="Mccormack S" first="Shana" last="Mccormack">Shana Mccormack</name>
<name sortKey="Milosevic, Dragana" sort="Milosevic, Dragana" uniqKey="Milosevic D" first="Dragana" last="Milosevic">Dragana Milosevic</name>
<name sortKey="Milosevic, Dragana" sort="Milosevic, Dragana" uniqKey="Milosevic D" first="Dragana" last="Milosevic">Dragana Milosevic</name>
<name sortKey="Pacak, Karel" sort="Pacak, Karel" uniqKey="Pacak K" first="Karel" last="Pacak">Karel Pacak</name>
<name sortKey="Prodanov, Tamara" sort="Prodanov, Tamara" uniqKey="Prodanov T" first="Tamara" last="Prodanov">Tamara Prodanov</name>
<name sortKey="Raygada, Margarita" sort="Raygada, Margarita" uniqKey="Raygada M" first="Margarita" last="Raygada">Margarita Raygada</name>
<name sortKey="Stratakis, Constantine A" sort="Stratakis, Constantine A" uniqKey="Stratakis C" first="Constantine A." last="Stratakis">Constantine A. Stratakis</name>
<name sortKey="Wesley, Robert" sort="Wesley, Robert" uniqKey="Wesley R" first="Robert" last="Wesley">Robert Wesley</name>
</country>
<country name="Australie"><noRegion><name sortKey="Hewitt, Jacqueline K" sort="Hewitt, Jacqueline K" uniqKey="Hewitt J" first="Jacqueline K." last="Hewitt">Jacqueline K. Hewitt</name>
</noRegion>
<name sortKey="Zacharin, Margaret" sort="Zacharin, Margaret" uniqKey="Zacharin M" first="Margaret" last="Zacharin">Margaret Zacharin</name>
</country>
<country name="France"><region name="Île-de-France"><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>
</region>
<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>
<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>
</country>
<country name="Allemagne"><region name="Saxe (Land)"><name sortKey="Eisenhofer, Graeme" sort="Eisenhofer, Graeme" uniqKey="Eisenhofer G" first="Graeme" last="Eisenhofer">Graeme Eisenhofer</name>
</region>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 006923 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 006923 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     Pascal:11-0483185
   |texte=   Metastatic Pheochromocytoma/Paraganglioma Related to Primary Tumor Development in Childhood or Adolescence: Significant Link to SDHB Mutations
}}

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024

Serveur d'exploration sur les relations entre la France et l'Australie

Metastatic Pheochromocytoma/Paraganglioma Related to Primary Tumor Development in Childhood or Adolescence: Significant Link to SDHB Mutations

Metastatic Pheochromocytoma/Paraganglioma Related to Primary Tumor Development in Childhood or Adolescence: Significant Link to SDHB Mutations

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Serveur d'exploration sur les relations entre la France et l'Australie
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.