Thida Aye M, Luhrs Carol, Baral Aastha, Zhonghua Li, Brown Jordonna
Hematology and Medical Oncology, SUNY Downstate Health Sciences University, Brooklyn, USA.
Pathology, SUNY Downstate Health Sciences University, Brooklyn, USA.
Cureus. 2025 Jun 1;17(6):e85208. doi: 10.7759/cureus.85208. eCollection 2025 Jun.
Latent myeloproliferative neoplasms are diagnostically challenging clonal hematopoietic disorders characterized by the JAK2 V617F mutation without overt hematologic abnormalities. This case report describes a 33-year-old woman presenting with recurrent splanchnic vein thrombosis, splenomegaly, and a history of unprovoked pulmonary embolism, found to have a JAK2 V617F-positive latent myeloproliferative neoplasm. Despite normal blood counts and unremarkable bone marrow findings, molecular testing confirmed the JAK2 V617F mutation (17% allele frequency), highlighting its critical role in diagnosing occult myeloproliferative neoplasms in patients with unexplained thrombosis. The patient's recurrent thrombotic events, including portal and mesenteric vein thrombosis, underscore the prothrombotic phenotype driven by JAK2 V617F mutation. Management included indefinite anticoagulation with apixaban, low-dose aspirin, and hydroxyurea to mitigate thrombotic risk and address the underlying clonal process. This case emphasizes the importance of molecular testing for JAK2 V617F in young patients with recurrent or unusual-site thrombosis, even with normal hematologic parameters, and the need for tailored therapeutic strategies to prevent complications and monitor disease progression.
潜伏性骨髓增殖性肿瘤是具有诊断挑战性的克隆性造血疾病,其特征为存在JAK2 V617F突变但无明显血液学异常。本病例报告描述了一名33岁女性,出现反复的内脏静脉血栓形成、脾肿大,并有不明原因的肺栓塞病史,经检查发现患有JAK2 V617F阳性的潜伏性骨髓增殖性肿瘤。尽管血细胞计数正常且骨髓检查无异常,但分子检测证实了JAK2 V617F突变(等位基因频率为17%),突出了其在诊断不明原因血栓形成患者隐匿性骨髓增殖性肿瘤中的关键作用。该患者反复出现血栓事件,包括门静脉和肠系膜静脉血栓形成,强调了由JAK2 V617F突变驱动的血栓前表型。治疗措施包括使用阿哌沙班进行长期抗凝、低剂量阿司匹林以及羟基脲,以降低血栓形成风险并处理潜在的克隆过程。本病例强调了对JAK2 V617F进行分子检测在反复出现或发生于不寻常部位血栓形成的年轻患者中的重要性,即使血液学参数正常,以及制定针对性治疗策略以预防并发症和监测疾病进展的必要性。