Clinical Performance of JAK2 V617F Mutation Detection Assays in a Molecular Diagnostics Laboratory: Evaluation of Screening and Quantitation Methods
The presence of the JAK2 V617F mutation is now part of clinical diagnostic algorithms, and JAK2 status is routinely assessed when BCR/ABL- chronic myeloproliferative neoplasms (MPNs) are suspected. The aim of this study was to evaluate performance of 3 screening and 1 quantitative method for JAK2 V6...
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| Veröffentlicht in: | American journal of clinical pathology 2009-11, Vol.132 (5), p.713-721 |
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| container_title | American journal of clinical pathology |
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| creator | CANKOVIC, Milena WHITELEY, Lisa HAWLEY, Robert C ZARBO, Richard J CHITALE, Dhananjay |
| description | The presence of the JAK2 V617F mutation is now part of clinical diagnostic algorithms, and JAK2 status is routinely assessed when BCR/ABL- chronic myeloproliferative neoplasms (MPNs) are suspected. The aim of this study was to evaluate performance of 3 screening and 1 quantitative method for JAK2 V617F detection. For the study, 43 samples (27 bone marrow aspirates and 16 peripheral blood samples) were selected. The screening assays were the JAK2 Activating Mutation Assay (InVivoScribe, San Diego, CA), JAK2 MutaScreen kit (Ipsogen, Luminy Biotech, Marseille, France), and a home-brew melting curve analysis method. Ipsogen's JAK2 MutaQuant assay was used for quantification of mutant and wild-type alleles. The limit of detection was 1% for the kit-based screening methods and 10% for the melting curve method. The JAK2 MutaQuant assay demonstrated analytic sensitivity of 0.01%. All 4 methods detected cases of BCR/ABL- MPNs and gave negative results with BCR/ABL+ chronic myelogenous leukemia, multiple myeloma, myelodysplastic syndrome, and normal cases. |
| doi_str_mv | 10.1309/AJCPFHUQZ9AGUEKA |
| format | Article |
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The aim of this study was to evaluate performance of 3 screening and 1 quantitative method for JAK2 V617F detection. For the study, 43 samples (27 bone marrow aspirates and 16 peripheral blood samples) were selected. The screening assays were the JAK2 Activating Mutation Assay (InVivoScribe, San Diego, CA), JAK2 MutaScreen kit (Ipsogen, Luminy Biotech, Marseille, France), and a home-brew melting curve analysis method. Ipsogen's JAK2 MutaQuant assay was used for quantification of mutant and wild-type alleles. The limit of detection was 1% for the kit-based screening methods and 10% for the melting curve method. The JAK2 MutaQuant assay demonstrated analytic sensitivity of 0.01%. All 4 methods detected cases of BCR/ABL- MPNs and gave negative results with BCR/ABL+ chronic myelogenous leukemia, multiple myeloma, myelodysplastic syndrome, and normal cases.</description><identifier>ISSN: 0002-9173</identifier><identifier>EISSN: 1943-7722</identifier><identifier>DOI: 10.1309/AJCPFHUQZ9AGUEKA</identifier><identifier>PMID: 19846812</identifier><identifier>CODEN: AJCPAI</identifier><language>eng</language><publisher>Chicago, IL: American Society of Clinical Pathologists</publisher><subject>Adult ; Aged ; Aged, 80 and over ; Biological and medical sciences ; Female ; Humans ; Investigative techniques, diagnostic techniques (general aspects) ; Janus Kinase 2 - genetics ; Male ; Medical sciences ; Middle Aged ; Myeloproliferative Disorders - diagnosis ; Myeloproliferative Disorders - genetics ; Pathology. Cytology. Biochemistry. Spectrometry. 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The aim of this study was to evaluate performance of 3 screening and 1 quantitative method for JAK2 V617F detection. For the study, 43 samples (27 bone marrow aspirates and 16 peripheral blood samples) were selected. The screening assays were the JAK2 Activating Mutation Assay (InVivoScribe, San Diego, CA), JAK2 MutaScreen kit (Ipsogen, Luminy Biotech, Marseille, France), and a home-brew melting curve analysis method. Ipsogen's JAK2 MutaQuant assay was used for quantification of mutant and wild-type alleles. The limit of detection was 1% for the kit-based screening methods and 10% for the melting curve method. The JAK2 MutaQuant assay demonstrated analytic sensitivity of 0.01%. All 4 methods detected cases of BCR/ABL- MPNs and gave negative results with BCR/ABL+ chronic myelogenous leukemia, multiple myeloma, myelodysplastic syndrome, and normal cases.</description><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Biological and medical sciences</subject><subject>Female</subject><subject>Humans</subject><subject>Investigative techniques, diagnostic techniques (general aspects)</subject><subject>Janus Kinase 2 - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Myeloproliferative Disorders - diagnosis</subject><subject>Myeloproliferative Disorders - genetics</subject><subject>Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques</subject><subject>Point Mutation</subject><subject>Polymerase Chain Reaction - methods</subject><subject>Reagent Kits, Diagnostic</subject><subject>Sensitivity and Specificity</subject><subject>Young Adult</subject><issn>0002-9173</issn><issn>1943-7722</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp90E1vEzEQBmALgWgo3DkhXyinBX9s1jG3VZq0tIloBeHAJRrbs8VoYwd7Fyn_oz-4Fg0cOXkOj94Zv4S85uw9l0x_aK_mN8vLze133V5sFtftEzLhupaVUkI8JRPGmKg0V_KEvMj5J2NczFj9nJxwPaubGRcTcj_vffAWenqDqYtpB8EijR29aq8F_dZwtaTrcYDBx0DPcUD7Z2pzhkOmPlCg69ijHXtI9NzDXYh58DbTFZiYYIjp8JEufkM_PkaU5C82IQYf7igER29HCIM_Lljj8CO6_JI866DP-Or4npLNcvF1flmtPl98mrerai8UHyrsOqdRSWes0RrUlEkNnTMMpBNWocNyfsNhikYXWTunrDGS16iNMdrKU_LuMXef4q8R87Dd-Wyx7yFgHPNW1Q2fKjWbFnn2X9moRgtWqwLfHOFodui2--R3kA7bv40X8PYIIJfau1QK9_mfE6J8okD5ACa8k9Q</recordid><startdate>20091101</startdate><enddate>20091101</enddate><creator>CANKOVIC, Milena</creator><creator>WHITELEY, Lisa</creator><creator>HAWLEY, Robert C</creator><creator>ZARBO, Richard J</creator><creator>CHITALE, Dhananjay</creator><general>American Society of Clinical Pathologists</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope><scope>7QO</scope><scope>7U9</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope></search><sort><creationdate>20091101</creationdate><title>Clinical Performance of JAK2 V617F Mutation Detection Assays in a Molecular Diagnostics Laboratory: Evaluation of Screening and Quantitation Methods</title><author>CANKOVIC, Milena ; WHITELEY, Lisa ; HAWLEY, Robert C ; ZARBO, Richard J ; CHITALE, Dhananjay</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p271t-effd9e73dbcb99a75039afdb0a3d2c7ede61761a5eb9fd94dd7cbb314e9bbb9c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Biological and medical sciences</topic><topic>Female</topic><topic>Humans</topic><topic>Investigative techniques, diagnostic techniques (general aspects)</topic><topic>Janus Kinase 2 - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Myeloproliferative Disorders - diagnosis</topic><topic>Myeloproliferative Disorders - genetics</topic><topic>Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques</topic><topic>Point Mutation</topic><topic>Polymerase Chain Reaction - methods</topic><topic>Reagent Kits, Diagnostic</topic><topic>Sensitivity and Specificity</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>CANKOVIC, Milena</creatorcontrib><creatorcontrib>WHITELEY, Lisa</creatorcontrib><creatorcontrib>HAWLEY, Robert C</creatorcontrib><creatorcontrib>ZARBO, Richard J</creatorcontrib><creatorcontrib>CHITALE, Dhananjay</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><collection>Biotechnology Research Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Biotechnology and BioEngineering Abstracts</collection><jtitle>American journal of clinical pathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>CANKOVIC, Milena</au><au>WHITELEY, Lisa</au><au>HAWLEY, Robert C</au><au>ZARBO, Richard J</au><au>CHITALE, Dhananjay</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical Performance of JAK2 V617F Mutation Detection Assays in a Molecular Diagnostics Laboratory: Evaluation of Screening and Quantitation Methods</atitle><jtitle>American journal of clinical pathology</jtitle><addtitle>Am J Clin Pathol</addtitle><date>2009-11-01</date><risdate>2009</risdate><volume>132</volume><issue>5</issue><spage>713</spage><epage>721</epage><pages>713-721</pages><issn>0002-9173</issn><eissn>1943-7722</eissn><coden>AJCPAI</coden><abstract>The presence of the JAK2 V617F mutation is now part of clinical diagnostic algorithms, and JAK2 status is routinely assessed when BCR/ABL- chronic myeloproliferative neoplasms (MPNs) are suspected. The aim of this study was to evaluate performance of 3 screening and 1 quantitative method for JAK2 V617F detection. For the study, 43 samples (27 bone marrow aspirates and 16 peripheral blood samples) were selected. The screening assays were the JAK2 Activating Mutation Assay (InVivoScribe, San Diego, CA), JAK2 MutaScreen kit (Ipsogen, Luminy Biotech, Marseille, France), and a home-brew melting curve analysis method. Ipsogen's JAK2 MutaQuant assay was used for quantification of mutant and wild-type alleles. The limit of detection was 1% for the kit-based screening methods and 10% for the melting curve method. The JAK2 MutaQuant assay demonstrated analytic sensitivity of 0.01%. All 4 methods detected cases of BCR/ABL- MPNs and gave negative results with BCR/ABL+ chronic myelogenous leukemia, multiple myeloma, myelodysplastic syndrome, and normal cases.</abstract><cop>Chicago, IL</cop><pub>American Society of Clinical Pathologists</pub><pmid>19846812</pmid><doi>10.1309/AJCPFHUQZ9AGUEKA</doi><tpages>9</tpages></addata></record> |
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| subjects | Adult Aged Aged, 80 and over Biological and medical sciences Female Humans Investigative techniques, diagnostic techniques (general aspects) Janus Kinase 2 - genetics Male Medical sciences Middle Aged Myeloproliferative Disorders - diagnosis Myeloproliferative Disorders - genetics Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Point Mutation Polymerase Chain Reaction - methods Reagent Kits, Diagnostic Sensitivity and Specificity Young Adult |
| title | Clinical Performance of JAK2 V617F Mutation Detection Assays in a Molecular Diagnostics Laboratory: Evaluation of Screening and Quantitation Methods |
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