title: JAK2 mutation: an aid in the diagnosis of occult myeloproliferative neoplasms in patients with major intraabdominal vein thrombosis and normal blood counts.
abstract: BACKGROUND
  Janus kinase-2 (JAK2) is mutated in a high proportion of patients with polycythemia vera and in a smaller number with essential thrombocythemia and primary myelofibrosis. Mutated JAK2 is an important diagnostic marker for myeloproliferative neoplasm (MPN) and may also play a major role in the pathogenesis of MPN.
  
  
  OBJECTIVE
  To evaluate the prevalence of mutated JAK2 (JAK2-V617F) among patients with major intraabdominal vein thrombosis who had normal blood counts at diagnosis of the initial event.
  
  
  METHODS
  The medical records of patients who presented with a major intraabdominal venous thrombosis and normal peripheral blood counts were obtained. JAK2-V617F mutation status was determined by real-time polymerase chain reaction.
  
  
  RESULTS
  Twenty-two patients were available for this analysis and 9 (41%) were found to have JAK2-V617F. Patients with positive JAK2-V617F were younger and had more frequent clinical splenomegaly than those with wild-type JAK2.
  
  
  CONCLUSIONS
  A high proportion of patients presenting with "idiopathic" major intraabdominal vein thrombosis and normal blood counts carry JAK2-V617F. We recommend searching for the mutation in this clinical setting to detect patients with occult MPN.
authors: Department of Hematology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors: Nadav
authors: N
authors: Sarid
authors: Department of Hematology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors: Rinat
authors: R
authors: Eshel
authors: Department of Hematology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors: Einam
authors: E
authors: Rahamim
authors: Department of Gastroenterology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors: Michal
authors: M
authors: Carmiel
authors: Department of Hematology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors: Ilya
authors: I
authors: Kirgner
authors: Department of Hematology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors: Meirav
authors: M
authors: Shpringer
authors: Department of Hematology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors: Svetlana
authors: S
authors: Trestman
authors: Department of Hematology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors: Rafi
authors: R
authors: Marilus
authors: Department of Hematology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors: Chava
authors: C
authors: Perry
authors: Department of Hematology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors: Aaron
authors: A
authors: Polliack
authors: Department of Hematology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors: Ella
authors: E
authors: Naparstek
authors: Department of Hematology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors: Yair
authors: Y
authors: Herishanu
mesh_terms: D000328:Adult; D000367:Age Factors; D001772:Blood Cell Count; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D015995:Prevalence; D060888:Real-Time Polymerase Chain Reaction; D013163:Splenomegaly / Q000453:epidemiology* / Q000209:etiology / Q000473:pathology; D020246:Venous Thrombosis / Q000473:pathology*
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2