Abstract
Abstract: Aplastic Anemia (AA) incidence is threefold higher in Asia compared to the western world. It is associated with pancytopenia that is induced by impaired bone marrow function. Cytopenias of at least two lineages are required for the diagnosis. Symptoms include pallor, weakness, fever, frequent infections, bruises, petechiae, and mucosal bleeding. Bone Marrow Transplant (BMT) and immunosuppressive therapy are the treatment options. Patients with Severe Aplastic Anemia (SAA) are susceptible to developing malignancies like acute myeloid leukemia (AML) or Myelodysplastic Syndrome (MDS). In this report, we present a case of SAA who transformed to AML/MDS. 5 years of post- Anti-Thymocyte Globulin (ATG), she acquired monosomy 7, RUNX1 & SETBP1 gene mutations. RUNX1 and SETBP1 mutations are correlated with poor overall survival and are predicted to have a lack of response from hypo-methylating agents. As the aspect of somatic mutation is complex and still not fully understood, it should be cautiously analyzed along with morphologic and cytogenetic results.
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