异基因造血干细胞移植治疗GATA2突变所致MonoMAC综合征伴病态造血1例并文献复习

Allogeneic hematopoietic stem cell transplantation in a patient with MonoMAC syndrome and hematopoietic dysplasia which was induced by GATA2 deficiency: a case report and literature review

回顾性分析浙江大学医学院附属第一医院2022年10月收治的1例MonoMAC综合征病例,女性,16岁,有多年外周血单核细胞数减少及轻度贫血病史,因"反复咳嗽咯痰伴发热"在浙江大学医学院附属第一医院多次就诊,最终结合血常规、病原学宏基因组测序、肺穿刺活检、骨髓穿刺活检及外周血二代测序等检查,诊断为MonoMAC综合征,并接受单倍体造血干细胞移植。患者移植过程较顺利,+16 d粒细胞植入,+17 d血小板植入,最终单核细胞数和NK细胞数恢复正常。MonoMAC综合征患者常因感染症状首次就诊,结合血常规中单核细胞明显减低,非结核分枝杆菌感染史、GATA2胚系突变等检查结果可确诊。部分患者需行异基因造血干细胞移植治疗以改善预后。

A retrospective analysis was conducted on a MonoMAC syndrome case admitted in October 2022 to the First Affiliated Hospital of Zhejiang University School of Medicine.The patient,a 16-year-old female with a history of persistent monocytopenia and mild anemia for several years,experienced recurrent symptoms of cough,expectoration,and fever,leading to multiple visits to the hospital.The diagnosis of MonoMAC syndrome was confirmed through comprehensive assessments including routine blood tests,pathogen metagenomic sequencing,lung and bone marrow biopsies,and next-generation sequencing of peripheral blood.The patient underwent haploidentical hematopoietic stem cell transplantation,with a smooth course of transplantation,achieving neutrophil engraftment on+16 d and platelet engraftment on+17 d,eventually restoring normal monocyte and NK cell counts.MonoMAC syndrome patients often initially present with infectious symptoms,and the diagnosis can be established based on significant monocytopenia in routine blood tests,history of non-tuberculous mycobacterial infections,and GATA2 germline mutations.Allogeneic hematopoietic stem cell transplantation may be required for some patients to improve their prognosis.