Concordance of assays designed for the quantification of JAK2V617F: a multicenter study
Identifieur interne : 002F76 ( Pmc/Corpus ); précédent : 002F75; suivant : 002F77Concordance of assays designed for the quantification of JAK2V617F: a multicenter study
Auteurs : Eric Lippert ; François Girodon ; Emma Hammond ; Jaroslav Jelinek ; N. Scott Reading ; Boris Fehse ; Katy Hanlon ; Mirjam Hermans ; Céline Richard ; Sabina Swierczek ; Valérie Ugo ; Serge Carillo ; Véronique Harrivel ; Christophe Marzac ; Daniela Pietra ; Marta Sobas ; Morgane Mounier ; Marina Migeon ; Sian Ellard ; Nicolaus Kröger ; Richard Herrmann ; Josef T. Prchal ; Radek C. Skoda ; Sylvie HermouetSource :
- 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
Links to Exploration step
PMC:2625411Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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><nlm:aff id="af1-0940038"> Laboratoire d’Hématologie, CHU, Bordeaux, France</nlm:aff>
</affiliation>
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<author><name sortKey="Girodon, Francois" sort="Girodon, Francois" uniqKey="Girodon F" first="François" last="Girodon">François Girodon</name>
<affiliation><nlm:aff id="af2-0940038"> Laboratoire d’Hématologie, CHU, Dijon, France</nlm:aff>
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<author><name sortKey="Hammond, Emma" sort="Hammond, Emma" uniqKey="Hammond E" first="Emma" last="Hammond">Emma Hammond</name>
<affiliation><nlm:aff id="af3-0940038"> Murdoch University, Perth, Australia</nlm:aff>
</affiliation>
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<author><name sortKey="Jelinek, Jaroslav" sort="Jelinek, Jaroslav" uniqKey="Jelinek J" first="Jaroslav" last="Jelinek">Jaroslav Jelinek</name>
<affiliation><nlm:aff id="af4-0940038"> University of Texas MD Anderson Cancer Center, Houston, Texas, USA</nlm:aff>
</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><nlm:aff id="af5-0940038"> ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Fehse, Boris" sort="Fehse, Boris" uniqKey="Fehse B" first="Boris" last="Fehse">Boris Fehse</name>
<affiliation><nlm:aff id="af6-0940038"> Uniklinik Eppendorf, Hamburg, Germany</nlm:aff>
</affiliation>
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<author><name sortKey="Hanlon, Katy" sort="Hanlon, Katy" uniqKey="Hanlon K" first="Katy" last="Hanlon">Katy Hanlon</name>
<affiliation><nlm:aff id="af7-0940038"> Molecular Genetics, Royal Devon and Exeter Hospital, Exeter, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hermans, Mirjam" sort="Hermans, Mirjam" uniqKey="Hermans M" first="Mirjam" last="Hermans">Mirjam Hermans</name>
<affiliation><nlm:aff id="af8-0940038"> Molecular Diagnostics, Jeroen Bosch Hospital, s-Hertogenbosch, Netherlands</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Richard, Celine" sort="Richard, Celine" uniqKey="Richard C" first="Céline" last="Richard">Céline Richard</name>
<affiliation><nlm:aff id="af9-0940038"> Laboratoire d’Hématologie, CHU, Clermont-Ferrand, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Swierczek, Sabina" sort="Swierczek, Sabina" uniqKey="Swierczek S" first="Sabina" last="Swierczek">Sabina Swierczek</name>
<affiliation><nlm:aff id="af10-0940038"> Hematology Division, University of Utah School of Medicine, Salt Lake City, Utah, USA</nlm:aff>
</affiliation>
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<author><name sortKey="Ugo, Valerie" sort="Ugo, Valerie" uniqKey="Ugo V" first="Valérie" last="Ugo">Valérie Ugo</name>
<affiliation><nlm:aff id="af11-0940038"> Laboratoire d’Hématologie, CHU, Brest, France</nlm:aff>
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<author><name sortKey="Carillo, Serge" sort="Carillo, Serge" uniqKey="Carillo S" first="Serge" last="Carillo">Serge Carillo</name>
<affiliation><nlm:aff id="af12-0940038"> Laboratoire de Cytologie Clinique et Cytogénétique, CHU, Nîmes, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Harrivel, Veronique" sort="Harrivel, Veronique" uniqKey="Harrivel V" first="Véronique" last="Harrivel">Véronique Harrivel</name>
<affiliation><nlm:aff id="af13-0940038"> Laboratoire d'Hématologie, Hôtel-Dieu, Paris, France</nlm:aff>
</affiliation>
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<author><name sortKey="Marzac, Christophe" sort="Marzac, Christophe" uniqKey="Marzac C" first="Christophe" last="Marzac">Christophe Marzac</name>
<affiliation><nlm:aff id="af13-0940038"> Laboratoire d'Hématologie, Hôtel-Dieu, Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Pietra, Daniela" sort="Pietra, Daniela" uniqKey="Pietra D" first="Daniela" last="Pietra">Daniela Pietra</name>
<affiliation><nlm:aff id="af14-0940038"> Department of Hematology, University of Pavia and Fondazione IRCCS Policlinico San Matteo, Pavia, Italy</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sobas, Marta" sort="Sobas, Marta" uniqKey="Sobas M" first="Marta" last="Sobas">Marta Sobas</name>
<affiliation><nlm:aff id="af15-0940038"> Experimental Hematology, Department of Biomedicine, Basel University Hospital, Basel, Switzerland</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Mounier, Morgane" sort="Mounier, Morgane" uniqKey="Mounier M" first="Morgane" last="Mounier">Morgane Mounier</name>
<affiliation><nlm:aff id="af2-0940038"> Laboratoire d’Hématologie, CHU, Dijon, France</nlm:aff>
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<author><name sortKey="Migeon, Marina" sort="Migeon, Marina" uniqKey="Migeon M" first="Marina" last="Migeon">Marina Migeon</name>
<affiliation><nlm:aff id="af1-0940038"> Laboratoire d’Hématologie, CHU, Bordeaux, France</nlm:aff>
</affiliation>
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<author><name sortKey="Ellard, Sian" sort="Ellard, Sian" uniqKey="Ellard S" first="Sian" last="Ellard">Sian Ellard</name>
<affiliation><nlm:aff id="af7-0940038"> Molecular Genetics, Royal Devon and Exeter Hospital, Exeter, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kroger, Nicolaus" sort="Kroger, Nicolaus" uniqKey="Kroger N" first="Nicolaus" last="Kröger">Nicolaus Kröger</name>
<affiliation><nlm:aff id="af6-0940038"> Uniklinik Eppendorf, Hamburg, Germany</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Herrmann, Richard" sort="Herrmann, Richard" uniqKey="Herrmann R" first="Richard" last="Herrmann">Richard Herrmann</name>
<affiliation><nlm:aff id="af3-0940038"> Murdoch University, Perth, Australia</nlm:aff>
</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><nlm:aff id="af5-0940038"> ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="af10-0940038"> Hematology Division, University of Utah School of Medicine, Salt Lake City, Utah, USA</nlm:aff>
</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><nlm:aff id="af15-0940038"> Experimental Hematology, Department of Biomedicine, Basel University Hospital, Basel, Switzerland</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hermouet, Sylvie" sort="Hermouet, Sylvie" uniqKey="Hermouet S" first="Sylvie" last="Hermouet">Sylvie Hermouet</name>
<affiliation><nlm:aff id="af16-0940038"> Laboratoire d’Hématologie, CHU, Nantes, France</nlm:aff>
</affiliation>
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<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><nlm:aff id="af1-0940038"> Laboratoire d’Hématologie, CHU, Bordeaux, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Girodon, Francois" sort="Girodon, Francois" uniqKey="Girodon F" first="François" last="Girodon">François Girodon</name>
<affiliation><nlm:aff id="af2-0940038"> Laboratoire d’Hématologie, CHU, Dijon, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hammond, Emma" sort="Hammond, Emma" uniqKey="Hammond E" first="Emma" last="Hammond">Emma Hammond</name>
<affiliation><nlm:aff id="af3-0940038"> Murdoch University, Perth, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Jelinek, Jaroslav" sort="Jelinek, Jaroslav" uniqKey="Jelinek J" first="Jaroslav" last="Jelinek">Jaroslav Jelinek</name>
<affiliation><nlm:aff id="af4-0940038"> University of Texas MD Anderson Cancer Center, Houston, Texas, USA</nlm:aff>
</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><nlm:aff id="af5-0940038"> ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Fehse, Boris" sort="Fehse, Boris" uniqKey="Fehse B" first="Boris" last="Fehse">Boris Fehse</name>
<affiliation><nlm:aff id="af6-0940038"> Uniklinik Eppendorf, Hamburg, Germany</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hanlon, Katy" sort="Hanlon, Katy" uniqKey="Hanlon K" first="Katy" last="Hanlon">Katy Hanlon</name>
<affiliation><nlm:aff id="af7-0940038"> Molecular Genetics, Royal Devon and Exeter Hospital, Exeter, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hermans, Mirjam" sort="Hermans, Mirjam" uniqKey="Hermans M" first="Mirjam" last="Hermans">Mirjam Hermans</name>
<affiliation><nlm:aff id="af8-0940038"> Molecular Diagnostics, Jeroen Bosch Hospital, s-Hertogenbosch, Netherlands</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Richard, Celine" sort="Richard, Celine" uniqKey="Richard C" first="Céline" last="Richard">Céline Richard</name>
<affiliation><nlm:aff id="af9-0940038"> Laboratoire d’Hématologie, CHU, Clermont-Ferrand, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Swierczek, Sabina" sort="Swierczek, Sabina" uniqKey="Swierczek S" first="Sabina" last="Swierczek">Sabina Swierczek</name>
<affiliation><nlm:aff id="af10-0940038"> Hematology Division, University of Utah School of Medicine, Salt Lake City, Utah, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Ugo, Valerie" sort="Ugo, Valerie" uniqKey="Ugo V" first="Valérie" last="Ugo">Valérie Ugo</name>
<affiliation><nlm:aff id="af11-0940038"> Laboratoire d’Hématologie, CHU, Brest, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Carillo, Serge" sort="Carillo, Serge" uniqKey="Carillo S" first="Serge" last="Carillo">Serge Carillo</name>
<affiliation><nlm:aff id="af12-0940038"> Laboratoire de Cytologie Clinique et Cytogénétique, CHU, Nîmes, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Harrivel, Veronique" sort="Harrivel, Veronique" uniqKey="Harrivel V" first="Véronique" last="Harrivel">Véronique Harrivel</name>
<affiliation><nlm:aff id="af13-0940038"> Laboratoire d'Hématologie, Hôtel-Dieu, Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Marzac, Christophe" sort="Marzac, Christophe" uniqKey="Marzac C" first="Christophe" last="Marzac">Christophe Marzac</name>
<affiliation><nlm:aff id="af13-0940038"> Laboratoire d'Hématologie, Hôtel-Dieu, Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Pietra, Daniela" sort="Pietra, Daniela" uniqKey="Pietra D" first="Daniela" last="Pietra">Daniela Pietra</name>
<affiliation><nlm:aff id="af14-0940038"> Department of Hematology, University of Pavia and Fondazione IRCCS Policlinico San Matteo, Pavia, Italy</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sobas, Marta" sort="Sobas, Marta" uniqKey="Sobas M" first="Marta" last="Sobas">Marta Sobas</name>
<affiliation><nlm:aff id="af15-0940038"> Experimental Hematology, Department of Biomedicine, Basel University Hospital, Basel, Switzerland</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Mounier, Morgane" sort="Mounier, Morgane" uniqKey="Mounier M" first="Morgane" last="Mounier">Morgane Mounier</name>
<affiliation><nlm:aff id="af2-0940038"> Laboratoire d’Hématologie, CHU, Dijon, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Migeon, Marina" sort="Migeon, Marina" uniqKey="Migeon M" first="Marina" last="Migeon">Marina Migeon</name>
<affiliation><nlm:aff id="af1-0940038"> Laboratoire d’Hématologie, CHU, Bordeaux, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Ellard, Sian" sort="Ellard, Sian" uniqKey="Ellard S" first="Sian" last="Ellard">Sian Ellard</name>
<affiliation><nlm:aff id="af7-0940038"> Molecular Genetics, Royal Devon and Exeter Hospital, Exeter, UK</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kroger, Nicolaus" sort="Kroger, Nicolaus" uniqKey="Kroger N" first="Nicolaus" last="Kröger">Nicolaus Kröger</name>
<affiliation><nlm:aff id="af6-0940038"> Uniklinik Eppendorf, Hamburg, Germany</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Herrmann, Richard" sort="Herrmann, Richard" uniqKey="Herrmann R" first="Richard" last="Herrmann">Richard Herrmann</name>
<affiliation><nlm:aff id="af3-0940038"> Murdoch University, Perth, Australia</nlm:aff>
</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><nlm:aff id="af5-0940038"> ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="af10-0940038"> Hematology Division, University of Utah School of Medicine, Salt Lake City, Utah, USA</nlm:aff>
</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><nlm:aff id="af15-0940038"> Experimental Hematology, Department of Biomedicine, Basel University Hospital, Basel, Switzerland</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hermouet, Sylvie" sort="Hermouet, Sylvie" uniqKey="Hermouet S" first="Sylvie" last="Hermouet">Sylvie Hermouet</name>
<affiliation><nlm:aff id="af16-0940038"> Laboratoire d’Hématologie, CHU, Nantes, France</nlm:aff>
</affiliation>
</author>
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<series><title level="j">Haematologica</title>
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<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
<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>
</div>
</front>
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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>
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