Myelodysplastic Syndrome (MDS) in a Child who Transformed to Acute Myeloid Leukaemia with Myelodysplasia-Related Changes (AML-MRC)

Background: Myelodysplastic syndromes (MDS) are a group of clonal hematopoietic stem cell diseases, accounting for < 5% of all hematologic malignancies in children. MDS is characterized by cytopenia, dysplasia in one or more of the major myeloid lineages, ineffective hematopoiesis, and recurrent genetic abnormalities. Approximately 30% of patients with MDS show progression to AML within a few months up to several years. This is an MDS case report in children who have undergone Acute Myeloid Leukaemia transformation with Myelodysplasia-Related Changes (AML-MRC). Case Report: A 16-year-old boy came to the Emergency Department of Sanglah General Hospital with a complaint of pain and swelling in both knees and joints since last month. Fatigue and fever happened a week before admission. Previously, he had been hospitalized twice with the same symptoms. Physical examination revealed pale conjunctiva with pancytopenia in the laboratory result. A blood smear showed normochromic normocytic anemia, neutropenia, and thrombocytopenia. Bone marrow aspiration morphology showed hypercellularity with blast presentation > 10% and multilineage dysplasia > 50% supporting MDS diagnosed transformation to Acute Myeloid Leukaemia with Myelodysplasia-Related Changes (AML-MRC). Leukemia phenotyping showed positive results on CD 33, CD 36 and HLA-DR presenting Monocytic Lineage. Conclusion: High degree dysplasia and blast percentage in blood and bone marrow increase tendency to transform into acute myeloid leukemia (AML). The diagnose of MDS requires analysis of blood and bone marrow morphology and cytogenetic analysis as a recommendation by WHO classification. Keywords: acute myeloid leukemia with myelodysplasia-related changes, cytopenia, dysplasia, myelodysplastic syndromes