title: Inferior vena cava thrombosis and its relationship with the JAK2V617F mutation and chronic myeloproliferative disease.
abstract: BACKGROUND
  Splanchnic vein thrombosis (SVT) is a typical manifestation of polycythaemia vera (PV) or essential thrombocythaemia (ET). The recently discovered JAK2V617F somatic mutation is closely associated with chronic myeloproliferative disease (CMD). We investigated whether thrombosis involving the inferior vena cava (IVC) is also related to the JAK2V617F mutation or CMD.
  
  
  METHODS
  Blood samples were obtained from 40 IVC thrombosis patients. Fifty-three patients with isolated lower extremity deep vein thrombosis (LE-DVT) and 20 SVT patients served as controls. The presence of the JAK2V617F mutation was assessed by real-time polymerase chain reaction (RT-PCR).
  
  
  RESULTS
  The JAK2V617F allele was not detected in any of the IVC thrombosis patients but was detected in one patient (2%) with isolated LE-DVT. However, the mutation-carrying patient did not exhibit symptoms of CMD. Even after an observation period of 30months, the patient's complete blood cell count did not exhibit any pathology. In contrast, the JAK2V617F allele was detected in four patients with SVT (20%) and CMD.
  
  
  CONCLUSIONS
  According to our data, there is no evidence that IVC thrombosis is associated with the JAK2V617F mutation or the presence of chronic myeloproliferative disease.
authors: Division of Vascular Medicine, Department of Internal Medicine, J.W. Goethe University Hospital Frankfurt/Main, Germany. Birgit.Linnemann@kgu.de
authors: Birgit
authors: B
authors: Linnemann
authors: Christiane
authors: C
authors: Kraft
authors: Martin
authors: M
authors: Roskos
authors: Dimitrios
authors: D
authors: Zgouras
authors: Edelgard
authors: E
authors: Lindhoff-Last
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002908:Chronic Disease; D015331:Cohort Studies; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000201:enzymology / Q000235:genetics* / Q000473:pathology*; D012307:Risk Factors; D014682:Vena Cava, Inferior / Q000473:pathology*; D020246:Venous Thrombosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology*; D055815:Young Adult
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2