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Gene mutation profile in patients with acquired pure red cell aplasia

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Abstract

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.

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Acknowledgments

We thank all patients who consented to disclose their medical records and answered our review calls. Their cooperation and helpful comments throw light upon our data collection and statistical analysis.

Funding

This study was supported by grants from National natural science foundation (81900118), Chinese Academy of Medical Sciences (CAMS) innovation fund for medical sciences (2016-I2M-3-004), National Key Research and Development Program of China (2016YFC0901500) and Beijing Natural Science Foundation (7192168).

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Author notes

  1. Zhangbiao Long and Hongmin Li contributed equally to this work.

Authors and Affiliations

  1. Department of Hematology, Peking union medical college hospital, Chinese academy of medical sciences and Peking union medical college, Beijing, 100730, China

    Zhangbiao Long, Hongmin Li, Yali Du, Miao Chen, Junling Zhuang & Bing Han

  2. Department of Hematology, The first affiliated hospital of Anhui medical university, Hefei, 230022, China

    Zhangbiao Long

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  1. Zhangbiao Long
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  2. Hongmin Li
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Correspondence to Bing Han.

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The authors declare that they have no competing interests.

Ethical approval

The study protocol was approved by the Ethics Committee of Peking union medical college hospital.

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Informed consent was obtained from all patients, and the study was conducted in accordance with the Declaration of Helsinki.

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Long, Z., Li, H., Du, Y. et al. Gene mutation profile in patients with acquired pure red cell aplasia. Ann Hematol 99, 1749–1754 (2020). https://doi.org/10.1007/s00277-020-04154-8

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  • DOI: https://doi.org/10.1007/s00277-020-04154-8

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