Concordance of assays designed for the quantification of JAK2V617F: a multicenter study
Identifieur interne : 002E25 ( Pmc/Curation ); précédent : 002E24; suivant : 002E26Concordance of assays designed for the quantification of JAK2V617F: a multicenter study
Auteurs : Eric Lippert [France] ; François Girodon [France] ; Emma Hammond [Australie] ; Jaroslav Jelinek [États-Unis] ; N. Scott Reading [États-Unis] ; Boris Fehse [Allemagne] ; Katy Hanlon [Royaume-Uni] ; Mirjam Hermans [Pays-Bas] ; Céline Richard [France] ; Sabina Swierczek [États-Unis] ; Valérie Ugo [France] ; Serge Carillo [France] ; Véronique Harrivel [France] ; Christophe Marzac [France] ; Daniela Pietra [Italie] ; Marta Sobas [Suisse] ; Morgane Mounier [France] ; Marina Migeon [France] ; Sian Ellard [Royaume-Uni] ; Nicolaus Kröger [Allemagne] ; Richard Herrmann [Australie] ; Josef T. Prchal [États-Unis] ; Radek C. Skoda [Suisse] ; Sylvie Hermouet [France]Source :
- Haematologica [ 0390-6078 ] ; 2008.
Abstract
This study shows that different techniques, particularly following calibration to a reference standard, can guarantee accurate quantification of the JAK2 (V617) mutant allele burden. See related perspective article on
Url:
DOI: 10.3324/haematol.13486
PubMed: 19001280
PubMed Central: 2625411
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Clermont-Ferrand</wicri:regionArea></affiliation></author><author><name sortKey="Swierczek, Sabina" sort="Swierczek, Sabina" uniqKey="Swierczek S" first="Sabina" last="Swierczek">Sabina Swierczek</name><affiliation wicri:level="1"><nlm:aff id="af10-0940038"> Hematology Division, University of Utah School of Medicine, Salt Lake City, Utah, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Hematology Division, University of Utah School of Medicine, Salt Lake City, Utah</wicri:regionArea></affiliation></author><author><name sortKey="Ugo, Valerie" sort="Ugo, Valerie" uniqKey="Ugo V" first="Valérie" last="Ugo">Valérie Ugo</name><affiliation wicri:level="1"><nlm:aff id="af11-0940038"> Laboratoire d’Hématologie, CHU, Brest, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Laboratoire d’Hématologie, CHU, Brest</wicri:regionArea></affiliation></author><author><name sortKey="Carillo, Serge" sort="Carillo, Serge" uniqKey="Carillo S" first="Serge" last="Carillo">Serge Carillo</name><affiliation wicri:level="1"><nlm:aff id="af12-0940038"> Laboratoire de Cytologie Clinique et Cytogénétique, CHU, Nîmes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Laboratoire de Cytologie Clinique et Cytogénétique, CHU, Nîmes</wicri:regionArea></affiliation></author><author><name sortKey="Harrivel, Veronique" sort="Harrivel, Veronique" uniqKey="Harrivel V" first="Véronique" last="Harrivel">Véronique Harrivel</name><affiliation wicri:level="1"><nlm:aff id="af13-0940038"> Laboratoire d'Hématologie, Hôtel-Dieu, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Laboratoire d'Hématologie, Hôtel-Dieu, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Marzac, Christophe" sort="Marzac, Christophe" uniqKey="Marzac C" first="Christophe" last="Marzac">Christophe Marzac</name><affiliation wicri:level="1"><nlm:aff id="af13-0940038"> Laboratoire d'Hématologie, Hôtel-Dieu, Paris, 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Experimental Hematology, Department of Biomedicine, Basel University Hospital, Basel</wicri:regionArea></affiliation></author><author><name sortKey="Mounier, Morgane" sort="Mounier, Morgane" uniqKey="Mounier M" first="Morgane" last="Mounier">Morgane Mounier</name><affiliation wicri:level="1"><nlm:aff id="af2-0940038"> Laboratoire d’Hématologie, CHU, Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Laboratoire d’Hématologie, CHU, Dijon</wicri:regionArea></affiliation></author><author><name sortKey="Migeon, Marina" sort="Migeon, Marina" uniqKey="Migeon M" first="Marina" last="Migeon">Marina Migeon</name><affiliation wicri:level="1"><nlm:aff id="af1-0940038"> Laboratoire d’Hématologie, CHU, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Laboratoire d’Hématologie, CHU, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Ellard, Sian" sort="Ellard, Sian" uniqKey="Ellard S" first="Sian" last="Ellard">Sian Ellard</name><affiliation wicri:level="1"><nlm:aff id="af7-0940038"> Molecular Genetics, Royal Devon and Exeter Hospital, Exeter, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Molecular Genetics, Royal Devon and Exeter Hospital, Exeter</wicri:regionArea></affiliation></author><author><name sortKey="Kroger, Nicolaus" sort="Kroger, Nicolaus" uniqKey="Kroger N" first="Nicolaus" last="Kröger">Nicolaus Kröger</name><affiliation wicri:level="1"><nlm:aff id="af6-0940038"> Uniklinik Eppendorf, Hamburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea> Uniklinik Eppendorf, Hamburg</wicri:regionArea></affiliation></author><author><name sortKey="Herrmann, Richard" sort="Herrmann, Richard" uniqKey="Herrmann R" first="Richard" last="Herrmann">Richard Herrmann</name><affiliation wicri:level="1"><nlm:aff id="af3-0940038"> Murdoch University, Perth, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Murdoch University, Perth</wicri:regionArea></affiliation></author><author><name sortKey="Prchal, Josef T" sort="Prchal, Josef T" uniqKey="Prchal J" first="Josef T." last="Prchal">Josef T. Prchal</name><affiliation wicri:level="1"><nlm:aff id="af5-0940038"> ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="af10-0940038"> Hematology Division, University of Utah School of Medicine, Salt Lake City, Utah, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Hematology Division, University of Utah School of Medicine, Salt Lake City, Utah</wicri:regionArea></affiliation></author><author><name sortKey="Skoda, Radek C" sort="Skoda, Radek C" uniqKey="Skoda R" first="Radek C." last="Skoda">Radek C. Skoda</name><affiliation wicri:level="1"><nlm:aff id="af15-0940038"> Experimental Hematology, Department of Biomedicine, Basel University Hospital, Basel, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea> Experimental Hematology, Department of Biomedicine, Basel University Hospital, Basel</wicri:regionArea></affiliation></author><author><name sortKey="Hermouet, Sylvie" sort="Hermouet, Sylvie" uniqKey="Hermouet S" first="Sylvie" last="Hermouet">Sylvie Hermouet</name><affiliation wicri:level="1"><nlm:aff id="af16-0940038"> Laboratoire d’Hématologie, CHU, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Laboratoire d’Hématologie, CHU, Nantes</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">19001280</idno><idno type="pmc">2625411</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2625411</idno><idno type="RBID">PMC:2625411</idno><idno type="doi">10.3324/haematol.13486</idno><date when="2008">2008</date><idno type="wicri:Area/Pmc/Corpus">002F76</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002F76</idno><idno type="wicri:Area/Pmc/Curation">002E25</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002E25</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Concordance of assays designed for the quantification of <italic>JAK2</italic>V617F: a multicenter study</title><author><name sortKey="Lippert, Eric" sort="Lippert, Eric" uniqKey="Lippert E" first="Eric" last="Lippert">Eric Lippert</name><affiliation wicri:level="1"><nlm:aff id="af1-0940038"> Laboratoire d’Hématologie, CHU, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Laboratoire d’Hématologie, CHU, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Girodon, Francois" sort="Girodon, Francois" uniqKey="Girodon F" first="François" last="Girodon">François Girodon</name><affiliation wicri:level="1"><nlm:aff id="af2-0940038"> Laboratoire d’Hématologie, CHU, Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Laboratoire d’Hématologie, CHU, Dijon</wicri:regionArea></affiliation></author><author><name sortKey="Hammond, Emma" sort="Hammond, Emma" uniqKey="Hammond E" first="Emma" last="Hammond">Emma Hammond</name><affiliation wicri:level="1"><nlm:aff id="af3-0940038"> Murdoch University, Perth, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Murdoch University, Perth</wicri:regionArea></affiliation></author><author><name sortKey="Jelinek, Jaroslav" sort="Jelinek, Jaroslav" uniqKey="Jelinek J" first="Jaroslav" last="Jelinek">Jaroslav Jelinek</name><affiliation wicri:level="1"><nlm:aff id="af4-0940038"> University of Texas MD Anderson Cancer Center, Houston, Texas, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> University of Texas MD Anderson Cancer Center, Houston, Texas</wicri:regionArea></affiliation></author><author><name sortKey="Reading, N Scott" sort="Reading, N Scott" uniqKey="Reading N" first="N. Scott" last="Reading">N. Scott Reading</name><affiliation wicri:level="1"><nlm:aff id="af5-0940038"> ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah</wicri:regionArea></affiliation></author><author><name sortKey="Fehse, Boris" sort="Fehse, Boris" uniqKey="Fehse B" first="Boris" last="Fehse">Boris Fehse</name><affiliation wicri:level="1"><nlm:aff id="af6-0940038"> Uniklinik Eppendorf, Hamburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea> Uniklinik Eppendorf, Hamburg</wicri:regionArea></affiliation></author><author><name sortKey="Hanlon, Katy" sort="Hanlon, Katy" uniqKey="Hanlon K" first="Katy" last="Hanlon">Katy Hanlon</name><affiliation wicri:level="1"><nlm:aff id="af7-0940038"> Molecular Genetics, Royal Devon and Exeter Hospital, Exeter, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Molecular Genetics, Royal Devon and Exeter Hospital, Exeter</wicri:regionArea></affiliation></author><author><name sortKey="Hermans, Mirjam" sort="Hermans, Mirjam" uniqKey="Hermans M" first="Mirjam" last="Hermans">Mirjam Hermans</name><affiliation wicri:level="1"><nlm:aff id="af8-0940038"> Molecular Diagnostics, Jeroen Bosch Hospital, s-Hertogenbosch, Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea> Molecular Diagnostics, Jeroen Bosch Hospital, s-Hertogenbosch</wicri:regionArea></affiliation></author><author><name sortKey="Richard, Celine" sort="Richard, Celine" uniqKey="Richard C" first="Céline" last="Richard">Céline Richard</name><affiliation wicri:level="1"><nlm:aff id="af9-0940038"> Laboratoire d’Hématologie, CHU, Clermont-Ferrand, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Laboratoire d’Hématologie, CHU, Clermont-Ferrand</wicri:regionArea></affiliation></author><author><name sortKey="Swierczek, Sabina" sort="Swierczek, Sabina" uniqKey="Swierczek S" first="Sabina" last="Swierczek">Sabina Swierczek</name><affiliation wicri:level="1"><nlm:aff id="af10-0940038"> Hematology Division, University of Utah School of Medicine, Salt Lake City, Utah, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Hematology Division, University of Utah School of Medicine, Salt Lake City, Utah</wicri:regionArea></affiliation></author><author><name sortKey="Ugo, Valerie" sort="Ugo, Valerie" uniqKey="Ugo V" first="Valérie" last="Ugo">Valérie Ugo</name><affiliation wicri:level="1"><nlm:aff id="af11-0940038"> Laboratoire d’Hématologie, CHU, Brest, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Laboratoire d’Hématologie, CHU, Brest</wicri:regionArea></affiliation></author><author><name sortKey="Carillo, Serge" sort="Carillo, Serge" uniqKey="Carillo S" first="Serge" last="Carillo">Serge Carillo</name><affiliation wicri:level="1"><nlm:aff id="af12-0940038"> Laboratoire de Cytologie Clinique et Cytogénétique, CHU, Nîmes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Laboratoire de Cytologie Clinique et Cytogénétique, CHU, Nîmes</wicri:regionArea></affiliation></author><author><name sortKey="Harrivel, Veronique" sort="Harrivel, Veronique" uniqKey="Harrivel V" first="Véronique" last="Harrivel">Véronique Harrivel</name><affiliation wicri:level="1"><nlm:aff id="af13-0940038"> Laboratoire d'Hématologie, Hôtel-Dieu, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Laboratoire d'Hématologie, Hôtel-Dieu, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Marzac, Christophe" sort="Marzac, Christophe" uniqKey="Marzac C" first="Christophe" last="Marzac">Christophe Marzac</name><affiliation wicri:level="1"><nlm:aff id="af13-0940038"> Laboratoire d'Hématologie, Hôtel-Dieu, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Laboratoire d'Hématologie, Hôtel-Dieu, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Pietra, Daniela" sort="Pietra, Daniela" uniqKey="Pietra D" first="Daniela" last="Pietra">Daniela Pietra</name><affiliation wicri:level="1"><nlm:aff id="af14-0940038"> Department of Hematology, University of Pavia and Fondazione IRCCS Policlinico San Matteo, Pavia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea> Department of Hematology, University of Pavia and Fondazione IRCCS Policlinico San Matteo, Pavia</wicri:regionArea></affiliation></author><author><name sortKey="Sobas, Marta" sort="Sobas, Marta" uniqKey="Sobas M" first="Marta" last="Sobas">Marta Sobas</name><affiliation wicri:level="1"><nlm:aff id="af15-0940038"> Experimental Hematology, Department of Biomedicine, Basel University Hospital, Basel, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea> Experimental Hematology, Department of Biomedicine, Basel University Hospital, Basel</wicri:regionArea></affiliation></author><author><name sortKey="Mounier, Morgane" sort="Mounier, Morgane" uniqKey="Mounier M" first="Morgane" last="Mounier">Morgane Mounier</name><affiliation wicri:level="1"><nlm:aff id="af2-0940038"> Laboratoire d’Hématologie, CHU, Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Laboratoire d’Hématologie, CHU, Dijon</wicri:regionArea></affiliation></author><author><name sortKey="Migeon, Marina" sort="Migeon, Marina" uniqKey="Migeon M" first="Marina" last="Migeon">Marina Migeon</name><affiliation wicri:level="1"><nlm:aff id="af1-0940038"> Laboratoire d’Hématologie, CHU, Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Laboratoire d’Hématologie, CHU, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Ellard, Sian" sort="Ellard, Sian" uniqKey="Ellard S" first="Sian" last="Ellard">Sian Ellard</name><affiliation wicri:level="1"><nlm:aff id="af7-0940038"> Molecular Genetics, Royal Devon and Exeter Hospital, Exeter, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Molecular Genetics, Royal Devon and Exeter Hospital, Exeter</wicri:regionArea></affiliation></author><author><name sortKey="Kroger, Nicolaus" sort="Kroger, Nicolaus" uniqKey="Kroger N" first="Nicolaus" last="Kröger">Nicolaus Kröger</name><affiliation wicri:level="1"><nlm:aff id="af6-0940038"> Uniklinik Eppendorf, Hamburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea> Uniklinik Eppendorf, Hamburg</wicri:regionArea></affiliation></author><author><name sortKey="Herrmann, Richard" sort="Herrmann, Richard" uniqKey="Herrmann R" first="Richard" last="Herrmann">Richard Herrmann</name><affiliation wicri:level="1"><nlm:aff id="af3-0940038"> Murdoch University, Perth, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Murdoch University, Perth</wicri:regionArea></affiliation></author><author><name sortKey="Prchal, Josef T" sort="Prchal, Josef T" uniqKey="Prchal J" first="Josef T." last="Prchal">Josef T. Prchal</name><affiliation wicri:level="1"><nlm:aff id="af5-0940038"> ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="af10-0940038"> Hematology Division, University of Utah School of Medicine, Salt Lake City, Utah, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Hematology Division, University of Utah School of Medicine, Salt Lake City, Utah</wicri:regionArea></affiliation></author><author><name sortKey="Skoda, Radek C" sort="Skoda, Radek C" uniqKey="Skoda R" first="Radek C." last="Skoda">Radek C. Skoda</name><affiliation wicri:level="1"><nlm:aff id="af15-0940038"> Experimental Hematology, Department of Biomedicine, Basel University Hospital, Basel, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea> Experimental Hematology, Department of Biomedicine, Basel University Hospital, Basel</wicri:regionArea></affiliation></author><author><name sortKey="Hermouet, Sylvie" sort="Hermouet, Sylvie" uniqKey="Hermouet S" first="Sylvie" last="Hermouet">Sylvie Hermouet</name><affiliation wicri:level="1"><nlm:aff id="af16-0940038"> Laboratoire d’Hématologie, CHU, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Laboratoire d’Hématologie, CHU, Nantes</wicri:regionArea></affiliation></author></analytic><series><title level="j">Haematologica</title><idno type="ISSN">0390-6078</idno><idno type="eISSN">1592-8721</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>This study shows that different techniques, particularly following calibration to a reference standard, can guarantee accurate quantification of the JAK2 (V617) mutant allele burden. See related perspective article on
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<front><journal-meta><journal-id journal-id-type="nlm-ta">Haematologica</journal-id><journal-id journal-id-type="hwp">haematol</journal-id><journal-id journal-id-type="publisher-id">Haematologica</journal-id><journal-title>Haematologica</journal-title><issn pub-type="ppub">0390-6078</issn><issn pub-type="epub">1592-8721</issn><publisher><publisher-name>Ferrata Storti Foundation</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">19001280</article-id><article-id pub-id-type="pmc">2625411</article-id><article-id pub-id-type="doi">10.3324/haematol.13486</article-id><article-id pub-id-type="publisher-id">0940038</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Articles</subject><subj-group><subject>Myeloproliferative Disorders</subject></subj-group></subj-group></article-categories><title-group><article-title>Concordance of assays designed for the quantification of <italic>JAK2</italic>V617F: a multicenter study</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Lippert</surname><given-names>Eric</given-names></name><xref ref-type="aff" rid="af1-0940038">1</xref></contrib><contrib contrib-type="author"><name><surname>Girodon</surname><given-names>François</given-names></name><xref ref-type="aff" rid="af2-0940038">2</xref></contrib><contrib contrib-type="author"><name><surname>Hammond</surname><given-names>Emma</given-names></name><xref ref-type="aff" rid="af3-0940038">3</xref></contrib><contrib contrib-type="author"><name><surname>Jelinek</surname><given-names>Jaroslav</given-names></name><xref ref-type="aff" rid="af4-0940038">4</xref></contrib><contrib contrib-type="author"><name><surname>Reading</surname><given-names>N. Scott</given-names></name><xref ref-type="aff" rid="af5-0940038">5</xref></contrib><contrib contrib-type="author"><name><surname>Fehse</surname><given-names>Boris</given-names></name><xref ref-type="aff" rid="af6-0940038">6</xref></contrib><contrib contrib-type="author"><name><surname>Hanlon</surname><given-names>Katy</given-names></name><xref ref-type="aff" rid="af7-0940038">7</xref></contrib><contrib contrib-type="author"><name><surname>Hermans</surname><given-names>Mirjam</given-names></name><xref ref-type="aff" rid="af8-0940038">8</xref></contrib><contrib contrib-type="author"><name><surname>Richard</surname><given-names>Céline</given-names></name><xref ref-type="aff" rid="af9-0940038">9</xref></contrib><contrib contrib-type="author"><name><surname>Swierczek</surname><given-names>Sabina</given-names></name><xref ref-type="aff" rid="af10-0940038">10</xref></contrib><contrib contrib-type="author"><name><surname>Ugo</surname><given-names>Valérie</given-names></name><xref ref-type="aff" rid="af11-0940038">11</xref></contrib><contrib contrib-type="author"><name><surname>Carillo</surname><given-names>Serge</given-names></name><xref ref-type="aff" rid="af12-0940038">12</xref></contrib><contrib contrib-type="author"><name><surname>Harrivel</surname><given-names>Véronique</given-names></name><xref ref-type="aff" rid="af13-0940038">13</xref></contrib><contrib contrib-type="author"><name><surname>Marzac</surname><given-names>Christophe</given-names></name><xref ref-type="aff" rid="af13-0940038">13</xref></contrib><contrib contrib-type="author"><name><surname>Pietra</surname><given-names>Daniela</given-names></name><xref ref-type="aff" rid="af14-0940038">14</xref></contrib><contrib contrib-type="author"><name><surname>Sobas</surname><given-names>Marta</given-names></name><xref ref-type="aff" rid="af15-0940038">15</xref></contrib><contrib contrib-type="author"><name><surname>Mounier</surname><given-names>Morgane</given-names></name><xref ref-type="aff" rid="af2-0940038">2</xref></contrib><contrib contrib-type="author"><name><surname>Migeon</surname><given-names>Marina</given-names></name><xref ref-type="aff" rid="af1-0940038">1</xref></contrib><contrib contrib-type="author"><name><surname>Ellard</surname><given-names>Sian</given-names></name><xref ref-type="aff" rid="af7-0940038">7</xref></contrib><contrib contrib-type="author"><name><surname>Kröger</surname><given-names>Nicolaus</given-names></name><xref ref-type="aff" rid="af6-0940038">6</xref></contrib><contrib contrib-type="author"><name><surname>Herrmann</surname><given-names>Richard</given-names></name><xref ref-type="aff" rid="af3-0940038">3</xref></contrib><contrib contrib-type="author"><name><surname>Prchal</surname><given-names>Josef T.</given-names></name><xref ref-type="aff" rid="af5-0940038">5</xref><xref ref-type="aff" rid="af10-0940038">10</xref></contrib><contrib contrib-type="author"><name><surname>Skoda</surname><given-names>Radek C.</given-names></name><xref ref-type="aff" rid="af15-0940038">15</xref></contrib><contrib contrib-type="author"><name><surname>Hermouet</surname><given-names>Sylvie</given-names></name><xref ref-type="aff" rid="af16-0940038">16</xref><xref ref-type="corresp" rid="c1-0940038"></xref></contrib></contrib-group><aff id="af1-0940038"><label>1</label> Laboratoire d’Hématologie, CHU, Bordeaux, France</aff><aff id="af2-0940038"><label>2</label> Laboratoire d’Hématologie, CHU, Dijon, France</aff><aff id="af3-0940038"><label>3</label> Murdoch University, Perth, Australia</aff><aff id="af4-0940038"><label>4</label> University of Texas MD Anderson Cancer Center, Houston, Texas, USA</aff><aff id="af5-0940038"><label>5</label> ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA</aff><aff id="af6-0940038"><label>6</label> Uniklinik Eppendorf, Hamburg, Germany</aff><aff id="af7-0940038"><label>7</label> Molecular Genetics, Royal Devon and Exeter Hospital, Exeter, UK</aff><aff id="af8-0940038"><label>8</label> Molecular Diagnostics, Jeroen Bosch Hospital, s-Hertogenbosch, Netherlands</aff><aff id="af9-0940038"><label>9</label> Laboratoire d’Hématologie, CHU, Clermont-Ferrand, France</aff><aff id="af10-0940038"><label>10</label> Hematology Division, University of Utah School of Medicine, Salt Lake City, Utah, USA</aff><aff id="af11-0940038"><label>11</label> Laboratoire d’Hématologie, CHU, Brest, France</aff><aff id="af12-0940038"><label>12</label> Laboratoire de Cytologie Clinique et Cytogénétique, CHU, Nîmes, France</aff><aff id="af13-0940038"><label>13</label> Laboratoire d'Hématologie, Hôtel-Dieu, Paris, France</aff><aff id="af14-0940038"><label>14</label> Department of Hematology, University of Pavia and Fondazione IRCCS Policlinico San Matteo, Pavia, Italy</aff><aff id="af15-0940038"><label>15</label> Experimental Hematology, Department of Biomedicine, Basel University Hospital, Basel, Switzerland</aff><aff id="af16-0940038"><label>16</label> Laboratoire d’Hématologie, CHU, Nantes, France</aff><author-notes><corresp id="c1-0940038">Correspondence: Sylvie Hermouet, Laboratoire d’Hématologie, Centre Hospitalier Universitaire, Institut de Biologie, 9 quai Moncousu, 44093 Nantes, France., E-mail:
<email>sylvie.hermouet@chu-nantes.fr</email></corresp></author-notes><pub-date pub-type="ppub"><month>1</month><year>2009</year></pub-date><pub-date pub-type="epub"><day>10</day><month>11</month><year>2008</year></pub-date><volume>94</volume><issue>1</issue><fpage>38</fpage><lpage>45</lpage><history><date date-type="received"><day>11</day><month>6</month><year>2008</year></date><date date-type="rev-recd"><day>14</day><month>8</month><year>2008</year></date><date date-type="accepted"><day>25</day><month>8</month><year>2008</year></date></history><copyright-statement>Copyright© 2009 Ferrata Storti Foundation</copyright-statement><copyright-year>2009</copyright-year><self-uri content-type="pdf" xlink:type="simple" xlink:href="haematol_94_38.pdf"></self-uri><abstract abstract-type="precis"><p>This study shows that different techniques, particularly following calibration to a reference standard, can guarantee accurate quantification of the JAK2 (V617) mutant allele burden. See related perspective article on
<related-article related-article-type="article-reference" vol="94" page="7" id="N0x3a1a190N0x22e07a0" xlink:href="19118374" ext-link-type="pubmed">page 7</related-article>.</p></abstract><abstract><sec><title>Background</title><p>Many different techniques have been designed for the quantification of <italic>JAK2</italic>V617F allelic burden, sometimes producing discrepant results.</p></sec><sec><title>Design and Methods</title><p><italic>JAK2</italic>V617F quantification techniques were compared among 16 centers using 11 assays based on quantitative polymerase chain reaction (with mutation-specific primers or probes, or fluorescent resonance energy transfer/melting curve analysis), allele-specific polymerase chain reaction, conventional sequencing or pyrosequencing.</p></sec><sec><title>Results</title><p>A first series of blinded samples (granulocyte DNA, n=29) was analyzed. Seven assays (12 centers) reported values inside the mean±2SD; the mean coefficient of variation was 31%. Sequencing techniques lacked sensitivity, and strong discrepancies were observed with four techniques, which could be attributed to inadequate standards or to different modes of expression of results. Indeed, quantification of <italic>JAK2</italic>V617F in relation to another control gene produced higher than expected values, suggesting the possibility of more than two <italic>JAK2</italic> copies/cell. After calibration of assays with common 1% to 100% <italic>JAK2</italic>V617F standards (dilutions of UKE-1 cells in normal leukocytes), 14 centers tested ten new samples. <italic>JAK2</italic>V617F allelic burdens greater or equal than 1% were then reliably quantified by five techniques – one allele specific-polymerase chain reaction and four TaqMan allele-specific quantitative polymerase chain reaction assays, including one previously giving results outside the mean±2SD – with a lower mean coefficient of variation (21%). Of these, only the two TaqMan allele-specific quantitative polymerase chain reaction assays with primer-based specificity could detect 0.2% <italic>JAK2</italic>V617F.</p></sec><sec><title>Conclusions</title><p>Techniques expressing the allelic burden as <italic>JAK2</italic>V617F/total <italic>JAK2</italic> and using a common set of standards produced similar quantification results but with variable sensitivity. Calibration to a reference standard improved reproducibility.</p></sec></abstract><kwd-group><kwd>JAK2V617F</kwd><kwd>quantification</kwd><kwd>standardization</kwd><kwd>allele-specific PCR</kwd><kwd>myeloproliferative diseases</kwd><kwd>multicenter study</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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