Acquired pure red cell aplasia (PRCA) is a disorder characterized by normocytic anemia associated with reticulocytopenia and an absence of erythroblasts. The gene mutation profile in acquired PRCA is not defined yet. In this study, we aimed to identify the gene mutation spectrum of patients with acquired PRCA and the correlation between gene mutations and response to immunosuppressive therapy (IST). Thirty newly diagnosed acquired PRCA patients were enrolled in this study, and then whole-exome sequencing were performed among these patients and a panel with 93 candidate genes which associated with other bone marrow failure for the following analysis. Subsequently patients were treated with IST for at least 2 years. When treated with IST, there were thirteen complete response, ten partial response (ORR 76.7%), and seven no response at a medium of 8 (6–10) months. Totally twenty-three mutations in fifteen genes were detected in sixteen patients (53%). The mutated genes were associated with transcription, signal transduction, and epigenetic regulation pathways. The most frequent transitions in the point mutations were C > T. Age, gender, hemoglobin level at diagnosis, and gene mutation or not did not influence the response to IST. However, although patients with BCOR or BCORL1 mutations had a similar response to IST compared with those without mutation (P = 0.235), they had a better response than those with other gene mutations (P = 0.0193). In conclusion, patients with acquired PRCA may have clonal gene mutations. The patients with BCOR and BCORL1 mutations may suggest a better response to IST compared with those with other mutations.

获得性纯红细胞发育不全（PRCA）是一种以网织红细胞减少症相关的正常性贫血和缺乏成红细胞为特征的疾病。尚未获得获得的PRCA中的基因突变谱。在这项研究中，我们旨在确定获得性PRCA患者的基因突变谱，以及基因突变与免疫抑制疗法（IST）反应之间的相关性。这项研究招募了30名新诊断的获得性PRCA患者，然后在这些患者中进行了全外显子测序，并进行了一组93个候选基因与其他骨髓衰竭相关的基因组的分析。随后，患者接受IST治疗至少2年。接受IST治疗时，有13例完全缓解，10例部分缓解（ORR 76.7％），在8（6-10）个月中，有7例没有反应。在十六名患者中共检测到十五个基因中的二十三个突变（53％）。突变的基因与转录，信号转导和表观遗传调控途径相关。点突变中最常见的转变是C>T。诊断时的年龄，性别，血红蛋白水平以及基因突变与否不影响对IST的反应。但是，尽管患者与没有突变的人相比，BCOR或BCORL1突变对IST的反应相似（P  = 0.235），与具有其他基因突变的人相比，它们的反应更好（P  = 0.0193）。总之，获得性PRCA的患者可能具有克隆基因突变。与其他突变患者相比，具有BCOR和BCORL1突变的患者对IST的反应可能更好。