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

摘要

Background: Myelodysplastic syndromes (MDS) are a group ofclonal hematopoietic stem cell diseases, accounting for < 5% ofall hematologic malignancies in children. MDS is characterized bycytopenia, dysplasia in one or more of the major myeloid lineages,ine?ective hematopoiesis, and recurrent genetic abnormalities.Approximately 30% of patients with MDS show progression toAML within a few months up to several years. This is an MDS casereport in children who have undergone Acute Myeloid Leukaemiatransformation with Myelodysplasia-Related Changes (AML-MRC).Case Report: A 16-year-old boy came to the EmergencyDepartment of Sanglah General Hospital with a complaint of painand swelling in both knees and joints since last month. Fatigue andfever happened a week before admission. Previously, he had beenhospitalized twice with the same symptoms. Physical examinationrevealed pale conjunctiva with pancytopenia in the laboratoryresult. A blood smear showed normochromic normocytic anemia,neutropenia, and thrombocytopenia. Bone marrow aspirationmorphology showed hypercellularity with blast presentation >10% and multilineage dysplasia > 50% supporting MDS diagnosedtransformation to Acute Myeloid Leukaemia with MyelodysplasiaRelated Changes (AML-MRC). Leukemia phenotyping showedpositive results on CD 33, CD 36 and HLA-DR presenting MonocyticLineage.Conclusion: High degree dysplasia and blast percentage in bloodand bone marrow increase tendency to transform into acutemyeloid leukemia (AML). The diagnose of MDS requires analysis ofblood and bone marrow morphology and cytogenetic analysis as arecommendation by WHO classifcation.