Diagnosing MonoMAC Syndrome in GATA2 Germline Mutated Myelodysplastic Syndrome via Next-Generation Sequencing in a Patient with Refractory and Complex Infection: Case Report and Literature Review

Yingying Shen,1 Yuzhu Li,2 Hangchao Li,2 Qi Liu,2 Huijie Dong,2 Bo Wang,1 Baodong Ye,1 Shenyun Lin,1 Yiping Shen,1 Dijiong Wu1 1Department of Hematology, First Affiliated Hospital of Zhejiang Chinese Medical University, Zhejiang Provincial Hospital of TCM, Hangzhou, Zhejiang Province, People’s Republic of China; 2First Clinical Medical College, Zhejiang Chinese Medical University, Zhejiang Provincial Hospital of TCM, Hangzhou, Zhejiang Province, People’s Republic of ChinaCorrespondence: Dijiong Wu; Yiping ShenDepartment of Hematology, First Affiliated Hospital of Zhejiang Chinese Medical University, No. 54 Youdian Road, Hangzhou, Zhejiang Province, People’s Republic of ChinaEmail wudijiong@zcmu.edu.cn; shenyp_@126.comAbstract: Monocytopenia and mycobacterial infection (MonoMAC) syndrome is a rare disease. Herein, we reported a 65-year-old Asian woman, previously diagnosed with myelodysplastic syndrome (MDS), suffering from recurrent pneumonia, intermittent fever, fatigue, and chest tightness lasting for five months. She was ultimately diagnosed with MonoMAC syndrome with Mycobacterium kansasii (M. kansasii) infection and GATA2 mutation through metagenomic generation sequencing (mNGS) of peripheral blood specimen, for which she was given anti-NTM therapy. Her situation significantly improved within 2 weeks of therapy. We discussed the clinical features, genetic characteristic, and prognosis of this disorder, aiming to further elucidate this rare syndrome. For MDS/AML patient with recurrent mixed infection and pancytopenia (especially with monocyte absence), MonoMAC syndrome should be highly suspected, and germline mutation and pathogen sequencing should be performed.Keywords: monocytopenia and mycobacterial infection syndrome, MonoMAC, M. kansasii, GATA-2 germline mutation, nontuberculous mycobacteria, next-generation sequencing