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Updated: Jan 25, 2026

Author Spotlight: Analyzing Bone Marrow Microenvironment in Murine Hematological Malignancies
Published on: November 10, 2023
Early Detection of Myelodysplastic Syndrome/Leukemia-associated Mutations Using NGS Is Critical in Treating Aplastic
Xiang Li1, Yao-Hui Wu1, Si-Si Cai1
1Institution of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.
Abstract:
Distinguishing between aplastic anemia (AA) and hypoblastic myelodysplastic syndrome (hMDS) with a low percentage of bone marrow (BM) blasts (<5%) can be difficult due to the overlap in clonality and a spectrum of genetic alternations between the two subtypes of diseases. However, due to recent advances in DNA sequencing technology, both spectrum and frequency of mutations can be accurately determined and monitored by next-generation sequencing (NGS) at initial diagnosis and during immunosuppressive therapy (IST) in patients with AA or hMDS. This improvement in acquiring a patient's genetic status and clonal evolution can provide more proper, precise, and on-time information to guide disease management, which is especially helpful in the absence of traditional morphologic/cytogenetic evidence.
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