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 |
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| 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: |
Adult
Male medicine.medical_specialty Deep vein Gastroenterology Myeloproliferative neoplasms Risk Factors Internal medicine medicine Humans Point Mutation Clinical significance Prospective Studies Splanchnic Circulation cardiovascular diseases Prospective cohort study Aged Aged 80 and over Venous Thrombosis Leg Hematology business.industry Venous Thromboembolism General Medicine Janus Kinase 2 Middle Aged Janus kinase-2 mutation medicine.disease Thrombosis Surgery JAK2V617F mutation Venous thrombosis medicine.anatomical_structure Splanchnic vein thrombosis Clinical relevance Female Original Article business Splanchnic Follow-Up Studies |
| 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 |
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