Mousinho Filipa, Santos Paula Sousa E, Azevedo Ana P, Pereira José Manuel, Lemos Raquel, Matos Sónia, Viana João Faro, Lima Fernando
Clinical Hematology Department, Hematology Laboratory, Hospital of São Francisco Xavier, West Lisbon Hospital Centre, 1449-005 Lisbon, Portugal.
Clinical Pathology Department, Hematology Laboratory, Hospital of São Francisco Xavier, West Lisbon Hospital Centre, 1449-005 Lisbon, Portugal.
Mol Clin Oncol. 2018 Sep;9(3):347-349. doi: 10.3892/mco.2018.1682. Epub 2018 Jul 19.
Patients with a Philadelphia chromosome-negative myeloproliferative neoplasm may develop a lymphoproliferative disorder; however, the clinical and molecular determinants and the chronological onset of the two events remain unknown. We herein report the case of a 64-year-old man with concomitant diagnosis of high-risk essential thrombocythemia with evidence of a thrombotic event and high-count monoclonal B-cell lymphocytosis (high-count MBL). The patient harbored a JAK2V617F mutation and one of the most common genetic alterations found in chronic lymphocytic leukemia (CLL) (del 13q), which may represent a sign of disease progression. He was initiated on cytoreductive therapy with hydroxyurea 500 mg 3 times per week and hypocoagulation treatment, and is currently under regular surveillance of MBL without CLL criteria.
费城染色体阴性骨髓增殖性肿瘤患者可能会发展为淋巴增殖性疾病；然而，这两种事件的临床和分子决定因素以及发病时间顺序仍不清楚。我们在此报告一例64岁男性患者，同时诊断为高危原发性血小板增多症并有血栓形成事件证据以及高计数单克隆B细胞淋巴细胞增多症（高计数MBL）。该患者携带JAK2V617F突变以及慢性淋巴细胞白血病（CLL）中最常见的基因改变之一（13q缺失），这可能代表疾病进展的迹象。他开始接受每周3次500毫克羟基脲的细胞减灭治疗和低凝治疗，目前在无CLL标准的情况下接受MBL的定期监测。
