McMahon Christine, Abu-Elmagd Kareem, Bontempo Franklin A, Kant Jeffrey A, Swerdlow Steven H
Department of Pathology, Division of Hematopathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Am J Clin Pathol. 2007 May;127(5):736-43. doi: 10.1309/JA1WD8JNVLGYNQYE.
Catastrophic intra-abdominal thrombosis can result from a variety of prothrombotic states, including polycythemia vera and essential thrombocythemia, both of which are frequently associated with an acquired mutation (V617F) in the JAK2 gene. To assess the prevalence and clinical implications of this mutation in the setting of intra-abdominal thrombosis, JAK2 V617F genotyping was performed in 42 patients who had catastrophic intra-abdominal thromboses resulting in visceral transplants. The prevalence of V617F was compared with that of other prothrombotic states for which molecular testing is routinely performed. V617F mutations were detected in 7 patients (17%), who were not distinguishable on the basis of their peripheral blood cell counts. The median posttransplantation survival of V617F+ patients was 17.5 months, compared with 116.4 months for the V617F- patients (ratio, 6.6; 95% confidence interval, 6.3-7.0). These results highlight the diagnostic usefulness of JAK2 V617F testing in this setting and underscore the clinical significance of a positive result.
灾难性腹腔内血栓形成可由多种血栓前状态引起，包括真性红细胞增多症和原发性血小板增多症，这两种疾病均常与JAK2基因的获得性突变（V617F）相关。为了评估这种突变在腹腔内血栓形成情况下的患病率及临床意义，对42例因灾难性腹腔内血栓形成而接受内脏移植的患者进行了JAK2 V617F基因分型。将V617F的患病率与其他常规进行分子检测的血栓前状态的患病率进行了比较。在7例患者（17%）中检测到V617F突变，这些患者在周围血细胞计数方面无明显差异。V617F阳性患者移植后的中位生存期为17.5个月，而V617F阴性患者为116.4个月（比值为6.6；95%置信区间为6.3 - 7.0）。这些结果突出了JAK2 V617F检测在这种情况下的诊断价值，并强调了阳性结果的临床意义。
