Sutton Bobbie Collett, Allen Richard A, Zhao Zhizhuang Joe, Dunn S Terence
Department of Pathology, The University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
Cancer Biomark. 2007;3(6):315-24. doi: 10.3233/cbm-2007-3605.
The chronic myeloproliferative disorders (CMPDs) are a heterogeneous group of clonal hematopoietic diseases characterized by production of increased numbers of mature leukocytes, erythrocytes, and/or platelets. Clinically these disorders are often insidious in onset, produce nonspecific thrombotic or hemorrhagic complications, and can be easily confused with a variety of benign, reactive conditions. Thus, confirming a CMPD can be difficult as it is often a diagnosis of exclusion. The recently identified JAK2(V617F) mutation is frequently present in the classic CMPDs polycythemia vera, essential thrombocythemia, and chronic idiopathic myelofibrosis. JAK2(V617F) determination has proven to be a useful diagnostic tool in patients with some clinical features suggestive for a CMPD, and may have benefit as a way to monitor known disease. There are several published molecular assays for the JAK2(V617F) target, of variable sensitivity and technical complexity, many of which are not easily replicated in a typical clinical laboratory. We present a robust, sensitive PCR/melt curve assay for the JAK2(V617F) mutation which uses the widely available Roche LightCycler platform, and is thus applicable to many clinical molecular laboratories.
慢性骨髓增殖性疾病（CMPDs）是一组异质性的克隆性造血疾病，其特征是成熟白细胞、红细胞和/或血小板数量增加。临床上，这些疾病通常起病隐匿，会产生非特异性血栓形成或出血并发症，并且很容易与多种良性反应性疾病相混淆。因此，确诊CMPD可能很困难，因为它往往是一种排除性诊断。最近发现的JAK2（V617F）突变经常出现在经典的CMPD真性红细胞增多症、原发性血小板增多症和慢性特发性骨髓纤维化中。对于具有某些提示CMPD临床特征的患者，JAK2（V617F）检测已被证明是一种有用的诊断工具，并且作为监测已知疾病的一种方法可能有益。针对JAK2（V617F）靶点有几种已发表的分子检测方法，其灵敏度和技术复杂性各不相同，其中许多方法在典型临床实验室中不易重复。我们介绍一种针对JAK2（V617F）突变的稳健、灵敏的PCR/熔解曲线检测方法，该方法使用广泛可用的罗氏LightCycler平台，因此适用于许多临床分子实验室。
