Long term follow up of 93 families with myeloproliferative neoplasms: life expectancy and implications of JAK2V617F in the occurrence of complications
Long term follow up of 93 families with myeloproliferative neoplasms: life expectancy and implications of JAK2V617F in the occurrence of complications
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DOI：
10.1016/j.bcmd.2012.06.004
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发表时间：
2012-10-01
影响因子：
2.3
通讯作者：
Najman, Albert
中科院分区：
文献类型：
--
作者：
Malak, Sandra;Labopin, Myriam;Najman, Albert
本文对93个家族性骨髓增生性肿瘤家系227例进行了长期研究，其中真性红细胞增多症（PV）97例，原发性血小板增多症（ET）105例，原发性骨髓纤维化（PMF）14例，慢性粒细胞白血病（CML）11例。在PV患者中，中位随访时间为12年，10年总生存率为83%，20年为37%。高JAK2（V617F）等位基因负荷与向骨髓纤维化的转化相关（p50%（p=0.09），但与AML无关。MPN的血液学转化导致69%的死亡，7%的脑卒中和4%的心肌梗死死亡。11例JAK2（V617F）突变患者在PV和ET中发生了13例深部内脏血栓形成。最后，尽管家族性PV和ET患者的预后与非家族性MPN相当，但JAK2（V617F）突变与整个人群中血栓形成的发生率更高相关。(C)2012 Elsevier Inc. All rights reserved.
The long-term evolution of familial myeloproliferative neoplasms was studied in 93 families with 227 subjects including 97 with polycythemia vera (PV), 105 essential thrombocythemia (ET), 14 primary myelofibrosis (PMF) and 11 chronic myeloid leukemia (CML). In PV patients, with 12 years of median follow-up, overall survival was 83% at 10 years and 37% at 20 years. A high JAK2(V617F) allele burden was correlated with the transformation to myelofibrosis (p50% (p=0.09), but not to AML Hematologic transformation of the MPN was responsible for 69% of the deaths, cerebral stroke for 7% and 4% died of myocardial infarction. Eleven JAK2(V617F) mutated patients developed 13 deep splanchnic thromboses in PV and ET. Finally whereas patients with familial PV and ET have a comparable prognosis to non-familial MPN, the JAK2(V617F) mutation was associated with a more frequent occurrence of thrombosis in the entire population. (C) 2012 Elsevier Inc. All rights reserved.