Medical Clinic and Policlinic I, Hematology and Cellular Therapy, University Hospital Leipzig, Leipzig, Germany; NCT Trial Center, National Center of Tumor Diseases, German Cancer Research Center (DKFZ), Heidelberg.
Hematology Department, Hospital Universitari i Politècnic, La Fe, València, Spain; CIBERONC, Instituto Carlos III, Madrid.
Haematologica. 2023 Jan 1;108(1):34-41. doi: 10.3324/haematol.2022.281137.
We retrospectively studied 125 patients with acute myeloid leukemia and trisomy 4 (median age at diagnosis, 58 years; range, 16-77 years) treated between 2000 and 2019 within a multicenter study. Trisomy 4 was the sole abnormality in 28 (22%) patients and additional abnormalities were present in 97 (78%) patients. Twenty-two (22%) and 15 (15%) of 101 tested patients harbored NPM1 and FLT3-ITD mutations. Two (3%) of 72 tested patients had double CEBPA mutations. Data on response to intensive anthracycline-based induction therapy were available for 119 patients. Complete remission was achieved in 67% (n=80) and the early death rate was 5% (n=6). Notably, patients with trisomy 4 as sole abnormality had a complete remission rate of 89%. Allogeneic hematopoietic cell transplantation was performed in 40 (34%) patients, of whom 19 were transplanted in first complete remission. The median follow-up of the intensively treated cohort was 5.76 years (95% confidence interval [95% CI]: 2.99-7.61 years). The 5-year overall survival and relapse-free survival rates were 30% (95% CI: 22-41%) and 27% (95% CI: 18-41%), respectively. An Andersen-Gill regression model on overall survival revealed that favorable-risk according to the European LeukemiaNet classification (hazard ratio [HR]=0.34; P=0.006) and trisomy 4 as sole abnormality (HR=0.41; P=0.01) were favorable factors, whereas age with a difference of 10 years (HR=1.15; P=0.11), female gender (HR=0.74; P=0.20) and allogeneic hematopoietic cell transplantation (HR=0.64; P=0.14) did not have an significant impact. In our cohort, patients with trisomy 4 as their sole abnormality had a high complete remission rate and favorable clinical outcome. Allogeneic hematopoietic cell transplantation did not seem to improve overall survival.
我们回顾性研究了 2000 年至 2019 年期间在一个多中心研究中接受治疗的 125 例患有急性髓细胞白血病和 4 号三体（中位诊断年龄为 58 岁；范围为 16-77 岁）的患者。单纯 4 号三体异常的患者有 28 例（22%），另外 97 例（78%）患者存在其他异常。在 101 例接受检测的患者中，22 例（22%）和 15 例（15%）存在 NPM1 和 FLT3-ITD 突变。在 72 例接受检测的患者中，有 2 例（3%）存在双 CEBPA 突变。119 例患者的强化蒽环类药物诱导治疗的缓解数据可用。67%（n=80）的患者达到完全缓解，早期死亡率为 5%（n=6）。值得注意的是，单纯 4 号三体异常的患者完全缓解率为 89%。40 例（34%）患者接受了异基因造血细胞移植，其中 19 例在首次完全缓解时进行了移植。强化治疗队列的中位随访时间为 5.76 年（95%置信区间[95%CI]：2.99-7.61 年）。5 年总生存率和无复发生存率分别为 30%（95%CI：22-41%）和 27%（95%CI：18-41%）。总生存的 Andersen-Gill 回归模型显示，根据欧洲白血病网分类的有利风险（危险比[HR]=0.34；P=0.006）和单纯 4 号三体异常（HR=0.41；P=0.01）是有利因素，而年龄相差 10 岁（HR=1.15；P=0.11）、女性（HR=0.74；P=0.20）和异基因造血细胞移植（HR=0.64；P=0.14）并没有显著影响。在我们的队列中，单纯 4 号三体异常的患者完全缓解率高，临床结局良好。异基因造血细胞移植似乎并没有改善总生存率。
