Giannotta Juri Alessandro, Fattizzo Bruno, Barcellini Wilma
Hematology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Department of Oncology and Oncohematology, University of Milan, Milan, Italy.
Front Oncol. 2021 Nov 11;11:756589. doi: 10.3389/fonc.2021.756589. eCollection 2021.
Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by intravascular hemolytic anemia and thrombosis and is notoriously associated with aplastic anemia and myelodysplastic syndromes. Rarer associations include myeloproliferative neoplasms (MPNs), which are also burdened by increased thrombotic tendency. The therapeutic management of this rare combination has not been defined so far. Here, we describe a 62-year-old man who developed a highly hemolytic PNH more than 10 years after the diagnosis of MPN. The patient started eculizumab, obtaining good control of intravascular hemolysis but without amelioration of transfusion-dependent anemia. Moreover, we performed a review of the literature regarding the clinical and pathogenetic significance of the association of PNH and MPN. The prevalence of PNH clones in MPN patients is about 10%, mostly in association with -positive myelofibrosis. Thrombotic events were a common clinical presentation (35% of subjects), sometimes refractory to combined treatment with cytoreductive agents, anticoagulants, and complement inhibitors. The latter showed only partial effectiveness in controlling hemolytic anemia and, due to the paucity of data, should be taken in consideration after a careful risk/benefit evaluation in this peculiar setting.
阵发性睡眠性血红蛋白尿（PNH）的特征为血管内溶血性贫血和血栓形成，并且众所周知与再生障碍性贫血和骨髓增生异常综合征相关。较为罕见的关联包括骨髓增殖性肿瘤（MPN），其也存在血栓形成倾向增加的问题。迄今为止，这种罕见组合的治疗管理尚未明确。在此，我们描述一名62岁男性，他在诊断为MPN 10多年后发生了高度溶血性PNH。患者开始使用依库珠单抗，血管内溶血得到良好控制，但输血依赖型贫血并未改善。此外，我们对关于PNH与MPN关联的临床和发病机制意义的文献进行了综述。MPN患者中PNH克隆的患病率约为10%，大多与阳性骨髓纤维化相关。血栓事件是常见的临床表现（35%的患者），有时对细胞减灭剂、抗凝剂和补体抑制剂联合治疗无效。后者在控制溶血性贫血方面仅显示出部分有效性，并且由于数据有限，在这种特殊情况下经过仔细的风险/效益评估后才应予以考虑。
