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内脏或脑静脉血栓形成且无明显慢性骨髓增殖性疾病患者中JAK2 V617F突变的发生率。

Incidence of the JAK2 V617F mutation among patients with splanchnic or cerebral venous thrombosis and without overt chronic myeloproliferative disorders.

作者信息

De Stefano V, Fiorini A, Rossi E, Za T, Farina G, Chiusolo P, Sica S, Leone G

机构信息

Institute of Hematology, Catholic University, Rome, Italy.

出版信息

J Thromb Haemost. 2007 Apr;5(4):708-14. doi: 10.1111/j.1538-7836.2007.02424.x. Epub 2007 Jan 29.

Abstract

BACKGROUND

Thrombosis of splanchnic or cerebral veins is a typical manifestation of polycythemia vera (PV) or essential thrombocythemia (ET). The recently identified Janus kinase 2 (JAK2) V617F somatic mutation is closely related to chronic myeloproliferative disorders (CMD).

OBJECTIVE

To assess the incidence of the JAK2 V617F mutation among patients with splanchnic or cerebral venous thrombosis with or without overt CMD.

PATIENTS AND METHODS

We searched for the mutation in 139 adult patients (> 18 years old) with thrombosis of hepatic veins (HVT, n = 15), or extrahepatic portal vein (PVT) and/or mesenteric vein (MVT) (n = 79), or cerebral veins (CVT, n = 45). Only 19 patients fulfilled criteria for diagnosis of PV (n = 8) or ET (n = 11) at the time of thrombosis: four had HVT, 11 PVT and/or MVT, and four CVT.

RESULTS

The JAK2 V617F mutation was found in 94.7% [95% CI 75.3-99.0] of the patients with overt CMD at the time of thrombosis, in 21.5% (95% CI 13.8-31.7) of the patients with abdominal venous thrombosis and without overt CMD, and in 4.8% (95% CI 1.3-16.1) of the patients with CVT and without overt CMD. Among the patients without overt CMD or thrombophilia and with unprovoked thrombosis, 29.4% (95% CI 16.8-46.1) with splanchnic venous thrombosis and 42.8% (95% CI 24.4-63.4) with PVT had the JAK2 V617F mutation.

CONCLUSIONS

A substantial proportion of patients with splanchnic venous thrombosis and a small, but significant, number of patients with CVT can be recognized as carriers of the JAK2 V617F mutation in the absence of overt signs of CMD. The clinical significance of such findings deserves further investigation.

摘要

背景

内脏或脑静脉血栓形成是真性红细胞增多症(PV)或原发性血小板增多症(ET)的典型表现。最近发现的Janus激酶2(JAK2)V617F体细胞突变与慢性骨髓增殖性疾病(CMD)密切相关。

目的

评估有或无明显CMD的内脏或脑静脉血栓形成患者中JAK2 V617F突变的发生率。

患者与方法

我们在139例成年患者(年龄>18岁)中寻找该突变,这些患者患有肝静脉血栓形成(HVT,n = 15)、肝外门静脉(PVT)和/或肠系膜静脉(MVT)血栓形成(n = 79)或脑静脉血栓形成(CVT,n = 45)。血栓形成时只有19例患者符合PV(n = 8)或ET(n = 11)的诊断标准:4例患有HVT,11例患有PVT和/或MVT,4例患有CVT。

结果

血栓形成时,94.7%[95%可信区间(CI)75.3 - 99.0]的明显CMD患者、21.5%(95%CI 13.8 - 31.7)的腹部静脉血栓形成且无明显CMD的患者以及4.8%(95%CI 1.3 - 16.1)的CVT且无明显CMD的患者发现有JAK2 V617F突变。在无明显CMD或血栓形成倾向且为自发性血栓形成的患者中,29.4%(95%CI 16.8 - 46.1)的内脏静脉血栓形成患者和42.8%(95%CI 24.4 - 63.4)的PVT患者有JAK2 V617F突变。

结论

在无明显CMD体征的情况下,相当一部分内脏静脉血栓形成患者以及少数但数量可观的CVT患者可被认定为JAK2 V617F突变携带者。这些发现的临床意义值得进一步研究。

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