利用高通量宏基因组测序技术对血液病患者感染性病原体进行横断面调查，为此类感染性疾病高危患者的快速诊断及早期针对性用药提供依据。

回顾性分析2019年1月至6月华中科技大学同济医学院附属同济医院血液科血液病患者外周血临床标本高通量宏基因组分析数据及患者临床特征，并归纳血液病患者的感染病原体种类特征。

共纳入41例患者资料，检出病原体阳性患者24例，其中细菌感染以假单胞菌属感染比例最高（4/24、16.67%），其次为不动杆菌属（2/24、8.33%）、克雷伯菌属(2/24、8.33%）、葡萄球菌属（2/24、8.33%）和黄单胞杆菌属（2/24、8.33%）；而奈瑟菌属、米勒菌属、幽门螺杆菌以及结核分枝杆菌则较罕见。共有6例患者检出混合型感染，其中以病毒和细菌混合型感染最为多见（4/24、16.67%）。真菌感染的病原菌种类较细菌性病原体更为分散，白色念珠菌、青霉菌、肺孢子菌和根霉菌检出1例（占0.04%），无明显聚集性；病原体相对丰度方面，83.33%（5/6）真菌病原体阳性患者的检出序列片段数偏少（< 100），仅1例检出高负荷真菌感染（曲霉菌序列片段数为2 836）。病毒类病原体的检测结果显示，病毒筛查谱限于已知的常见DNA病毒；从测序结果看，24例检测阳性患者中巨细胞病毒、EB病毒和单纯疱疹病毒1型为检出率最高的病毒，均占20.83%（5/24）；较真菌，病毒种类存在一定聚集性，其相对负荷亦较高（平均序列片段数> 200）；而单纯疱疹病毒2型和指环病毒属病毒检出率相对较低，分别占4.17%（1/24）和8.33%（2/24）。

本研究创新性地利用高通量宏基因组测序技术检测血液病患者感染性疾病的病原体谱系；利用高通量宏基因组测序技术可快速锁定病原体并予以针对性抗菌药物治疗具有重要的临床价值。

To investigate the infectious pathogens in patients with hematologic diseases by high-throughput macrogenome sequencing, and to provide evidence for rapid diagnosis and early targeted drug use.

From January to June 2019, the data and clinical characteristics of the patients with peripheral blood were analyzed, retrospectively, and the types of infectious pathogens were summarized.

Total of 41 patients were collected, among whom, 24 cases were pathogens positive, of which the highest percentage of bacterial infection was Pesudomona spp. (4/24, 16.67%), following by Acinetobacter spp. (2/24, 8.33%), Klebsiella spp. (2/24, 8.33%), Staphylococcus spp. (2/24, 8.33%) and Stenotrophomonas maltophilia (2/24,8.33%). However, Neisseria spp., Moelleralla spp. and M. tuberculosis infectons were all rare. Total of 6 patients detected mixed infection, among which virus and bacteria mixed infection was the most common (4/24, 16.67%). In comparison, fungal infection demonstrated scattered feature, with each one positive case (0.04%) detected for Candida albicans, Penicillium spp., Pneumocystis carinii, Rhizopus spp., and Saccharomyces spp. For the relative abundance of pathogens was concerned, 83.33% (5/6) of positive fungal pathogens had less fragment reads (< 100) and only 1 case had high load fungal infection (Aspergillus spp. reads was 2 836). Detection results of viral pathogens showed that the virus screening spectrum was limited to known common DNA viruses. The results showed that cytomegalovirus (CMV), Epstein-Barr virus (EBV) and herpes simplex virus type 1 (HSV1) had the highest detection rates among 24 positive patients, accounting for 20.83% (5/24); compared with fungal pathogens, there was a certain aggregation of virus species, and its relative load was higher (average sequence reads > 200). The detection rates of HSV2 and torquetenosus virus (TTV) were relatively low, accounting for 4.17% (1/24) and 8.33% (2/24), respectively.

The high-throughput macrogenome sequencing technique was used to detect the pathogenic strains of infectious diseases in patients with hematologic diseases. High-throughput macrogenome sequencing technology could rapidly target pathogens and provide targeted antimicrobial therapy had important clinical value.