Relevance of the JAK2V617F mutation in patients with deep vein thrombosis of the leg

Autor: Michiel Coppens, Harry R. Koene, C. Homburg, Alexander F. Y. van Wulfften Palthe, C. Ellen van der Schoot, Mandy N. Lauw, B. J. Biemond, Saskia Middeldorp, Erik W. N. Bus
Přispěvatelé: Vascular Medicine, Clinical Haematology, Amsterdam Cardiovascular Sciences, Landsteiner Laboratory, Other departments, Amsterdam institute for Infection and Immunity, Cancer Center Amsterdam
Jazyk: angličtina
Rok vydání: 2012
Předmět:
Zdroj: Annals of hematology, 91(1), 103-107. Springer Verlag
Annals of Hematology
ISSN: 0939-5555
Popis: Venous thromboembolism (VTE) can be the first presenting symptom in myeloproliferative neoplasms (MPN). Studies have demonstrated a high prevalence of the JAK2V617F mutation in patients with splanchnic vein thrombosis. Fewer studies have been done in patients with thrombosis outside the splanchnic area, showing a lower prevalence although the clinical relevance of the mutation in these patients, e.g., progression to overt MPN, remains unknown. The objective of this study was to determine the effect size of JAK2V617F in prospectively collected DNA samples of patients objectively diagnosed with deep vein thrombosis (DVT) of the leg and controls without DVT, with follow-up on JAK2V617F-positive patients to assess clinical relevance. Presence of JAK2V617F was determined in DNA samples from 187 patients with DVT and 201 controls, using quantitative RT-PCR. Hematological parameters were also analyzed. All initially JAK2V617F-positive patients were reassessed. Of 187 patients with DVT, 178 were analyzed for JAK2V617F, and in four (2.3%; 95% CI 0.1–4.4), JAK2V617F was present. Of 201 controls, 198 were analyzed; one was JAK2V617F positive (0.5%; 95% CI −0.5–1.5, OR 4.5; 95% CI 0.5–40.9). None had MPN features, nor upon reassessment after a median follow-up of 68.5 months. Four JAK2V617F-positive patients with DVT and one control without DVT did not develop overt MPN after a median follow-up of nearly 6 years. Thus, in patients with non-splanchnic venous thrombosis, JAK2V617F appears not to be clinically relevant.
Databáze: OpenAIRE