P'ng Stephanie, Carnley Ben, Baker Ross, Kontorinis Nick, Cheng Wendy
Haematology Department, Royal Perth Hospital, Perth, Western Australia.
Clin Gastroenterol Hepatol. 2008 Apr;6(4):472-5. doi: 10.1016/j.cgh.2007.12.046. Epub 2008 Mar 7.
BACKGROUND & AIMS: Extrahepatic portal vein thrombosis and Budd-Chiari syndrome frequently result from multiple concurrent factors such as cirrhosis, intra-abdominal sepsis, procoagulant states, and underlying myeloproliferative disorders (MPDs). The JAK2 V617F mutation is a point mutation in the Janus kinase 2 (JAK2) tyrosine kinase that is variably present in MPDs. The incidence depends on the subclassification of the MPDs and the sensitivity of the assay used. This case series aimed to illustrate the diagnostic utility of JAK2 V617F mutation in atypical cases of MPD that otherwise may not have met traditional diagnostic criteria.
Granulocytic DNA was obtained and real-time polymerase chain reaction was performed using allele-specific primer and probe to provide a quantitative expression of the V617F mutation.
The JAK2 V617F point mutation was found in 3 patients with extrahepatic portal vein thrombosis who had multiple thrombotic events but did not fulfill the traditional diagnostic criteria for MPDs.
A sensitive assay for the JAK2 V617F mutation has the potential to diagnose atypical MPDs in multiple undiagnosed cases of intra-abdominal thrombosis and therefore alter the management and prognosis of these patients.
肝外门静脉血栓形成和布加综合征常由多种并发因素引起，如肝硬化、腹腔内感染、促凝状态和潜在的骨髓增殖性疾病（MPD）。JAK2 V617F突变是Janus激酶2（JAK2）酪氨酸激酶中的一个点突变，在MPD中可变存在。其发生率取决于MPD的亚分类及所用检测方法的敏感性。本病例系列旨在说明JAK2 V617F突变在MPD非典型病例中的诊断效用，这些病例否则可能不符合传统诊断标准。
获取粒细胞DNA，使用等位基因特异性引物和探针进行实时聚合酶链反应，以提供V617F突变的定量表达。
在3例肝外门静脉血栓形成患者中发现了JAK2 V617F点突变，这些患者有多次血栓形成事件，但不符合MPD的传统诊断标准。
一种针对JAK2 V617F突变的敏感检测方法有可能在多例未诊断的腹腔内血栓形成病例中诊断非典型MPD，从而改变这些患者的治疗和预后。
