Karakulska-Prystupiuk Ewa, Gierej Beata, Paszkowska-Kowalewska Malgorzata, Wilkowojska Urszula, Jedrzejczak Wiesław Wiktor
Warszawski Uniwersytet Medyczny, Katedra i Klinika Hematologii, Onkologii i Chorób Wewnetrznych.
Pol Merkur Lekarski. 2012 Jul;33(193):29-31.
We report a case of a patient with a diagnosis of myeloproliferative neoplasm, unclassifiable, manifested only portal vein thrombosis and followed by cirrhosis of the liver. 37-year-old patient, previously healthy, without congenital thrombophilia, without prior thrombosis, with normal peripheral blood morphology were signs of extensive portal vein system, with massive collateral circulation. Patient did not meet the criteria for diagnosis of any of the classic myeloproliferative neoplasms. Bone marrow examination revealed hyperplasia and presence of single polymorphic megakaryocytes. Positive JAK2V617F mutation status was typical for myeloproliferative neoplasm. Therefore, that the portal system thrombosis is, sometimes accompanying symptom of other myeloproliferative neoplasm, caused by mutations, including polycythemia vera, essential thrombocythaemia and primary myelofibrisis, one can assume that between this mutation and observed in this patient thrombosis is relationship, despite the absence of changes in peripheral blood. This may suggest that we are dealing with myeloproliferative neoplasm, in which platelets are indeed produced in normal numbers, but they are functionally activated, causing disturbances apparently unusual for cancer. This requires confirmation in further studies.
我们报告一例诊断为无法分类的骨髓增殖性肿瘤患者，仅表现为门静脉血栓形成，随后发展为肝硬化。患者为37岁，既往健康，无先天性血栓形成倾向，无既往血栓形成史，外周血形态正常，存在广泛门静脉系统体征及大量侧支循环。该患者不符合任何经典骨髓增殖性肿瘤的诊断标准。骨髓检查显示增生及单个多形性巨核细胞的存在。JAK2V617F突变状态阳性是骨髓增殖性肿瘤的典型表现。因此，鉴于门静脉系统血栓形成有时是其他骨髓增殖性肿瘤的伴随症状，由包括真性红细胞增多症、原发性血小板增多症和原发性骨髓纤维化在内的突变引起，尽管该患者外周血无变化，仍可推测此突变与所观察到的血栓形成之间存在关联。这可能提示我们面对的是一种骨髓增殖性肿瘤，其中血小板数量确实正常产生，但功能上被激活，导致明显不同于癌症的异常情况。这需要进一步研究予以证实。
