JAK2 V617F mutations and thrombosis in BCR-ABL1 negative myeloproliferative neoplasms: clinical profile and hematologic insights

JAK2 V617F 突变与 BCR-ABL1 阴性骨髓增殖性肿瘤中的血栓形成:临床特征和血液学见解

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Abstract

BACKGROUND: The interplay between JAK2 mutation, thrombosis, and the baseline clinical and hematologic profile of MPN remains poorly understood. This study aims to provide insight on the relationship between the clinical profile and hematologic findings, JAK2 V617F mutation, and the occurrence of thrombotic events in BCR-ABL1 negative MPNs. MATERIALS AND METHODS: We retrospectively analyzed 198 patients with BCR-ABL1-negative MPNs to assess associations between JAK2 V617F mutation status, hematologic parameters, clinical features, and thrombotic events. RESULTS: Patients under 40 years old were associated with JAK2 V617F-negative MPN (p<0.05). In PV patients, cardiovascular comorbidities were associated with a 4.5-fold increased risk of thrombosis (OR 4.59; CI 1.57-13.43; p=0.005). Mutated-JAK2 V617F MPN was associated with lower platelets and higher WBC count, while thrombosis was associated with higher hemoglobin and hematocrit (p<0.01). However, we found no associations between JAK2 V617F mutation and thrombotic events across all MPN subtypes. CONCLUSION: Cardiovascular comorbidity are an independent risk factor for thrombosis in PV. While JAK2 V617F mutation was associated with distinct hematologic profiles, it was not independently linked to thrombotic risk. These findings highlight the significance of clinical comorbidities and hematologic parameters in thrombotic event occurrences in MPN patients.

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