The JAK2 rs12343867 CC genotype frequently occurs in patients with splanchnic venous thrombosis without the JAK2V617F mutation: A retrospective study

摘要

Splanchnic venous thrombosis (SVT) is a typical presentation of chronic myeloproliferative neoplasm (MPN) [1]. Over the last few years, the acquired JAK2V617F mutation has been recognized as being closely related to MPN, providing a robust diagnostic tool [2]. Thus, the JAK2V617F mutation is frequently found in patients with SVT. Moreover, a portion of SVT JAK2V617F-positive patients did not suffer from an overt MPN [3]. Very recently, a series of studies demonstrated that a particular haplotype is associated with an increased risk of acquiring the JAK2V617F somatic mutation [4-6]. These findings suggest that a JAK2 haplotype may represent a disease susceptibility locus for the development of somatic mutations that have a role in MPN pathogenesis. On the other hand, if a certain JAK2 haplotype, preceding and being associated with, the JAK2V617F somatic mutation can represent a predisposition to MPN, it is conceivable that it may be an independent risk factor for SVT. Thus, we have investigated whether a JAK2 polymorphism (rs 12343867: T/ C), tagging a specific JAK2 haplotype, occurs in a high proportion of non-cirrhotic SVT patients.