[摘要] 目的：采用基因测序技术结合生物信息分析手段探索原发性浆细胞白血病（PCL）的肿瘤新生抗原。方法：采集1 例原发性PCL患者复发期和缓解期的外周血样本，利用基于序列分型的聚合酶链式反应进行HLA分型，利用二代测序技术对全外显子组和转录组进行测序，利用生物信息学软件NetMHCpan预测新生抗原。结果：该患者复发期外周血中发现6 个肿瘤特异的错义突变基因，分别为FRG1、MLL3、SVIL、MYOM1、ZDHHC11、RFPL4A基因；结合患者的HLA亚型，通过生物信息预测出43条新生抗原。优先选取表达水平较高的FRG1 和MLL3 基因突变所产生的20 条新生抗原，其中4 条新生抗原高度亲合患者的HLA分子，具有潜在的临床应用价值。结论：完成了1 例原发性PCL肿瘤新生抗原的筛查和预测，实践说明基于肿瘤特异的体细胞突变预测新生抗原的方法对于原发性PCL同样可行。

[Abstract] Objective:To investigate the tumor-specific neoantigen for primary plasma cell leukemia (PCL) using gene sequencing technology combined with bioinformatic analysis. Methods: Peripheral blood samples of one patient with primary PCL during relapse and remission periods were collected. HLA molecular typing was performed using polymerase chain reaction with sequencing-based typing; whole-exome and transcriptome were sequenced by next-generation sequencing method; and bioinformatics software NetMHCpan was used to predict neoantigens. Results: Six tumor-specific missense mutations were found in the patient's peripheral blood during relapse period, located in genes FRG1, MLL3, SVIL, MYOM1, ZDHHC11 and RFPL4A.Considering patient's HLA sub-types, 43 neoantigens were predicted via bioinformatics. Considering that FRG1 and MLL3 had relatively high gene expression levels, 20 neoantigens derived from mutations of the two genes were preferentially selected, among which four neoantigens had high affinity with the patient's HLA molecules and thus had potential clinical application value. Conclusion: The study has completed a tumor neoantigen screen and prediction for primary PCL. This practice demonstrates that predicting neoantigen based on tumor-specific somatic mutation is feasible for primary PCL.

江苏省社会发展-临床前沿技术项目（No. BE2016809）；南京市科技发展计划项目（No. 201503011）