Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.
Department of Experimental and Clinical Medicine, CRIMM, Center Research and Innovation of Myeloproliferative Neoplasms, Azienda Ospedaliera Universitaria Careggi, University of Florence, Florence, Italy.
Am J Hematol. 2021 Jul 1;96(7):781-789. doi: 10.1002/ajh.26186. Epub 2021 May 6.
Venetoclax (Ven) combined with a hypomethylating agent (HMA) has now emerged as an effective treatment regimen for acute myeloid leukemia, in both de novo and relapsed/refractory setting. The current multicenter study retrospectively examined Ven + HMA treatment outcome among 32 patients (median age 69 years; 59% males) with blast-phase myeloproliferative neoplasm (MPN-BP). Pre-leukemic phenotype included essential thrombocythemia (ET)/post-ET myelofibrosis (34%), polycythemia vera (PV)/post-PV myelofibrosis (38%) and primary myelofibrosis (28%). Twenty-nine study patients were fully annotated cytogenetically and molecularly (NGS): 69% harbored complex karyotype and/or mutations, including TP53 (41%), IDH1/2 (21%), ASXL1 (21%), N/KRAS (14%), SRSF2 (10%), EZH2 (10%) and U2AF1 (7%). All patients received Ven combined with either azacitidine (n = 12) or decitabine (n = 20); either up front (n = 23) or after failing another induction therapy (n = 9). Complete remission with (CR) or without (CRi) count recovery was achieved in 14 (44%) patients and was more likely to occur in the absence of pre-leukemic PV/post-PV myelofibrosis phenotype (p < .01), complex karyotype (p < .01) or K/NRAS (p = .03) mutations; seven of eight patients (88%) without vs four of 21 (19%) with complex karyotype or K/NRAS mutation achieved CR/CRi (p < .01); all 11 informative patients with pre-leukemic PV/post-PV myelofibrosis phenotype displayed complex karyotype (p < .01). In contrast, neither TP53 (p = .45) nor IDH1/2 (p = .63) mutations affected response. Compared to historical controls treated with HMA alone (n = 26), the CR/CRi rate (44% vs 4%) and median survival (8 vs 5.5 months) were more favorable with Ven + HMA, but without significant difference in overall survival. Importantly, six patients with CR/CRi subsequently received allogeneic hematopoietic stem cell transplant (AHSCT). Note, Ven + HMA produces robust CR/CRi rates in MPN-BP, especially in the absence of RAS mutations and complex karyotype, thus enabling AHSCT, in some patients.
维奈托克(Ven)联合低甲基化药物(HMA)已成为初治和复发/难治性急性髓系白血病的有效治疗方案。目前的多中心研究回顾性分析了 32 例(中位年龄 69 岁;男性占 59%)处于急变期骨髓增生性肿瘤(MPN-BP)患者的 Ven+HMA 治疗结果。前白血病表型包括原发性血小板增多症(ET)/ET 后骨髓纤维化(34%)、真性红细胞增多症(PV)/PV 后骨髓纤维化(38%)和原发性骨髓纤维化(28%)。29 例研究患者进行了完全细胞遗传学和分子学(NGS)注释:69%的患者存在复杂核型和/或突变,包括 TP53(41%)、IDH1/2(21%)、ASXL1(21%)、N/KRAS(14%)、SRSF2(10%)、EZH2(10%)和 U2AF1(7%)。所有患者均接受 Ven 联合阿扎胞苷(n=12)或地西他滨(n=20)治疗; upfront 治疗(n=23)或另一种诱导治疗失败后(n=9)治疗。14 例(44%)患者达到完全缓解(CR)或不完全缓解伴血细胞计数恢复(CRi),且在无前白血病 PV/post-PV 骨髓纤维化表型(p<.01)、复杂核型(p<.01)或 K/NRAS(p=.03)突变的情况下更有可能达到 CR/CRi;8 例无复杂核型或 K/NRAS 突变患者中有 7 例(88%)达到 CR/CRi,而 21 例有复杂核型或 K/NRAS 突变患者中有 4 例(19%)达到 CR/CRi(p<.01);11 例有前白血病 PV/post-PV 骨髓纤维化表型的患者均存在复杂核型(p<.01)。相比之下,TP53(p=.45)和 IDH1/2(p=.63)突变对缓解均无影响。与单独接受 HMA 治疗的历史对照(n=26)相比,Ven+HMA 治疗的 CR/CRi 率(44% vs 4%)和中位生存时间(8 个月 vs 5.5 个月)更有利,但总生存时间无显著差异。重要的是,6 例达到 CR/CRi 的患者随后接受了异基因造血干细胞移植(AHSCT)。值得注意的是,Ven+HMA 在 MPN-BP 中产生了可观的 CR/CRi 率,尤其是在无 RAS 突变和复杂核型的情况下,因此使一些患者能够接受 AHSCT。