目的 探讨宏基因二代测序(mNGS)在造血干细胞移植治疗疑难感染性血液病患者中的临床应用价值.方法 回顾性分析2022年8月至2023年8月遵义医科大学附属医院血液科住院治疗的疑难、危重感染的行造血干细胞移植的血液病患者的临床病例资料和mNGS病原菌结果.结果 本研究中,6例患者男5例,女1例,急性髓系白血病3例,极重型再生障碍性贫血1例,原发中枢神经系统弥漫大B细胞淋巴瘤1例,阵发性睡眠性血红蛋白尿1例;自体造血干细胞移植1例,异基因造血干细胞移植5例.对外周血、深部痰液、肺泡灌洗液、胸水标本进行mNGS检测,结合临床及常规培养结果分析,有临床意义的病原菌中,小克银汉霉属1例,金黄色葡萄球菌1例,耶氏肺孢子菌1例,分枝杆菌属1例,烟曲霉菌1例,大肠埃希菌1例.治疗转归,死亡1例,好转5例.结论 对于血液病行造血干细胞移植患者合并感染,常规病原学检查未能明确致病原或规范性经验抗感染治疗无效,或者临床怀疑罕见、难培养的病原菌或非典型病原菌感染以及可能并发危及生命的严重感染,完善常规病原学检测的同时开展mNGS检测有助于早期诊断.
Objective To investigate the clinical application value of metagenomic next-generation sequencing(mNGS)in the hematopoietic stem cell transplantation treatment for refractory infectious diseases in the patients with hematologic diseases.Methods The clinical case data and mNGS pathogen results of patients with difficult and severely infectious diseases who underwent hematopoietic stem cell transplantation in the Department of He-matology of the Affiliated Hospital of Zunyi Medical University from August 2022 to August 2023 were retrospec-tively analyzed.Results Among the patients(5 males and 1 female)included in this study,there were 3 cases of acute myeloid leukemia,1 case of severe aplastic anemia,1 case of primary central nervous system diffuse large B-cell lymphoma and 1 case of paroxysmal nocturnal hemoglobinuria.One case performed autologous hematopoiet-ic stem cell transplantation,and the 5 other cases performed allogeneic hematopoietic stem cell transplantation.Their peripheral blood,deep sputum,bronchoalveolar lavage fluid,and pleural effusion specimens were subjec-ted to mNGS testing,and the results were analyzed in combination with clinical and routine culture.Significant clinical pathogens included pseudomonas aeruginosa in 1 case,staphylococcus aureus in 1 case,pneumocystis ji-rovecii in 1 case,mycobacterium sp in 1 case,aspergillums in 1 case,and escherichia coli in 1 case.Treatment outcome resulted in 1 death and 5 improvements.Conclusion For patients with hematological diseases undergo-ing hematopoietic stem cell transplantation and presenting with concomitant infections,when routine pathogen de-tection fails to identify the causative agent or if the standard empirical anti-infective treatment proves ineffective,or in cases where there is clinical suspicion of rare,hard-to-cultivate pathogens or atypical pathogen infections which threaten the patient's life,integrating mNGS tests with enhanced routine pathogen detection can aid in early diagnosis.