Clinical Performance of JAK2 V617F Mutation Detection Assays in a Molecular Diagnostics Laboratory Evaluation of Screening and Quantitation Methods
Clinical Performance of JAK2 V617F Mutation Detection Assays in a Molecular Diagnostics Laboratory Evaluation of Screening and Quantitation Methods
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DOI：
10.1309/ajcpfhuqz9agueka
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发表时间：
2009-11-01
影响因子：
3.5
通讯作者：
Chitale, Dhananjay
中科院分区：
文献类型：
--
作者：
Cankovic, Milena;Whiteley, Lisa;Chitale, Dhananjay
JAK 2 V617 F突变的存在现在是临床诊断算法的一部分，并且当怀疑BCR/ABL-慢性骨髓增生性肿瘤（MPN）时，常规评估JAK 2状态。本研究的目的是评价用于JAK 2 V617 F检测的3种筛查和1种定量方法的性能。对于该研究，选择了43个样品（27个骨髓抽吸物和16个外周血样品）。筛选测定是JAK 2激活突变测定（In VivoScribe，San Diego，CA）、JAK 2 MutaScreen试剂盒（Ipsogen，Luminy Biotech，马赛，法国），并且自制熔解曲线分析方法Ipsogen的JAK 2 MutaQuant测定用于定量突变体和野生型等位基因。基于试剂盒的筛选方法的检测限为1%，熔解曲线方法的检测限为10%。JAK 2 MutaQuant检测试剂盒的分析灵敏度为0.01%。4种方法均检出BCR/ABL-MPN例，对BCR/ABL+慢性粒细胞白血病、多发性骨髓瘤、骨髓增生异常综合征及正常人均阴性。
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 I quantitative method for JAK2 V617F detection. For the study, 43 samples (2 7 bone marrow aspirates and 16 peripheral blood samples) were selected The screening assays were the JAK2 Activating Mutation Assay (In VivoScribe, 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.