Early Detection of Myelodysplastic Syndrome/Leukemia-associated Mutations Using NGS Is Critical in Treating Aplastic Anemia

Summary 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.