在急性髓性白血病患者中，三体染色体19对结果的影响取决于遗传组成。
Impact of trisomy 19 on outcome according to genetic makeup in patients with acute myeloid leukemia.
发表日期：2023 Feb 23
作者：
Sabine Kayser, David Martínez-Cuadrón, Rebeca Rodriguez-Veiga, Mathias Hänel, Mar Tormo, Kerstin Schäfer-Eckart, Carmen Botella, Friedrich Stölzel, Teresa Bernal Del Castillo, Ulrich Keller, Carlos Rodriguez-Medina, Gerhard Held, Maria-Luz Amigo, Christoph Schliemann, Mercedes Colorado, Martin Kaufmann, Manuel Barrios Garcia, Stefan W Krause, Martin Görner, Edgar Jost, Björn Steffen, Sven Zukunft, Uwe Platzbecker, Anthony D Ho, Claudia D Baldus, Hubert Serve, Carsten Müller-Tidow, Christian Thiede, Martin Bornhäuser, Pau Montesinos, Christoph Röllig, Richard F Schlenk
来源：
HAEMATOLOGICA
摘要：
我们回顾性研究了97例三体19染色体异常（tris-19）的急性髓系白血病（AML）患者（中位诊断年龄57岁，范围17-83岁），他们在2001年至2019年期间在两个多中心研究组中接受治疗。 tris-19仅在10例（10.5％）中出现，而在非复杂核型中的8例（8％）和在82例（82％）患者的复杂核型中也有。总的来说，三体现象为唯一染色体异常的核型出现在27例（28％）患者中。92名及格进行了密集治疗的患者的反应和结果数据，并且中位随访时间为6.4年（95％-CI，2.9-9.0年）。诱导治疗后完全缓解（CR）的比例为52％（n = 48），早期死亡率为10％（n = 9）。值得注意的是，tris-19是唯一异常的患者的CR率为89％。在34例（35％）患者中进行了同种异体造血干细胞移植（allo-HCT）（CR，n = 19；活动性疾病，n = 15）。 5年无复发和总生存率分别为26％（95％-CI，16-43％）和20％（95％-CI，13-31％）。在tris-19是唯一异常或仅由三体核型特征的核型中的患者中，OS率显着较高（P = 0.05）。包括allo-HCT作为时间相关协变量的Andersen-Gill模型在OS上显示，tris-19为唯一异常或仅由三体染色体特征的核型是有利因素（HR，0.47；P = 0.021）;诊断年龄越高，出现不良影响（10年差异；HR，1.29；P = 0.002），而allo-HCT没有益处（OR，1.45; P = 0.21）。在我们的队列中，tris-19是唯一异常或仅由三体核型特征的核型的患者具有很高的CR率和更好的临床结果。
We retrospectively studied 97 AML patients with trisomy 19 (tris-19; median age at diagnosis 57 years; range, 17-83 years) treated between 2001 and 2019 within two multicenter study groups. Tris-19 occurred solely in 10 (10.5%), with additional abnormalities in non-complex karyotypes in 8 (8%) and within complex karyotypes in 79 (82%) patients. Altogether, karyotypes characterized by trisomies only were present in 27 (28%) patients. Data on response and outcome of intensively treated patients were available in 92 patients and median follow-up was 6.4 years (95%-CI, 2.9-9.0 years). Complete remission (CR) after induction therapy was achieved in 52% (n=48) and early death rate was 10% (n=9). Notably, patients with tris-19 as sole abnormality had a CR rate of 89%. An allogeneic hematopoietic stem cell transplantation (allo-HCT) was performed in 34 (35%) patients (CR, n=19; active disease, n=15). Five-year relapse-free and overall survival (OS) rates were 26% (95%-CI, 16-43%) and 20% (95%-CI, 13-31%), respectively. OS rates were significantly higher in patients with tris-19 as sole abnormality or within karyotypes characterized by trisomies only (P=0.05). An Andersen-Gill model including allo-HCT as a time dependent covariable on OS revealed tris-19 as sole abnormality or within karyotypes characterized by trisomies only as favorable factors (HR, 0.47; P=0.021); higher age at diagnosis had an adverse impact (10 years difference; HR, 1.29; P=0.002), whereas allo-HCT had no beneficial impact (OR, 1.45; P=0.21). In our cohort, patients with tris-19 as sole abnormality or within karyotypes characterized by trisomies only had a high CR rate and better clinical outcome.