Li Xiao-Qing, Liu Jia-Jun, Liu Cheng-Cheng
Department of Hematology, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China.
Sun Yat-Sen Institute of Hematology, Guangzhou, Guangdong, China.
Front Oncol. 2022 Nov 22;12:937362. doi: 10.3389/fonc.2022.937362. eCollection 2022.
Double mutations have rarely been described in myeloproliferative neoplasms (MPNs) and are demonstrated to be associated with the polycythemia vera (PV) phenotype. Here, we first report a case of a PV patient with a double L611S/V617L mutation of . A 40-year-old woman was admitted to the hospital with massive splenomegaly, multiple splenic infarcts, and abdominal pain. She had a 4-year history of erythrocytosis with an antecedent 10-year history of thrombocytosis before coming to our hospital. She was diagnosed with L611S/V617L double-mutant PV after a detailed medical examination in 2017. According to the literature, IFNα therapy can induce clinical, hematological, histopathological, and occasionally molecular remission in individuals with MPNs. Our report demonstrates that combination therapy with ruxolitinib and IFNα can lead to a substantial reduction in L611S/V617L double-mutant allele burden.
双突变在骨髓增殖性肿瘤（MPN）中鲜有报道，且已证实与真性红细胞增多症（PV）表型相关。在此，我们首次报告一例携带双L611S/V617L突变的PV患者。一名40岁女性因巨脾、多发脾梗死及腹痛入院。在来我院之前，她有4年红细胞增多症病史，之前还有10年血小板增多症病史。2017年经过详细医学检查，她被诊断为L611S/V617L双突变型PV。根据文献，干扰素α治疗可使MPN患者实现临床、血液学、组织病理学缓解，偶尔还能实现分子学缓解。我们的报告表明，芦可替尼与干扰素α联合治疗可使L611S/V617L双突变等位基因负担大幅降低。
