Contributions
Abstract: PB2113
Type: Publication Only
Background
Myelodysplastic syndrome (MDS) in children is rare and accounts for less than 5% of hematopoietic malignancies in childhood. Most are secondary to cytotoxic therapy, inherited bone marrow failure disorders or acquired severe aplastic anemia. Abnormalities in chromosome 7 are seen both in de novo and therapy-related MDS.
Aims
We aim to present a case of a child with a rare diagnosis of secondary MDS.
Methods
Clinical case presentation.
Results
A 4 year-old female child from Angola presented with pancytopenia in 2014. She was first treated with quinine and clindamycin due to an ongoing malaria endemic outbreak, although the diagnosis was not confirmed, and later with ceftriaxone, cloxacillin, meropenem and fluconazole for persistent fever and high inflammatory levels. In July 2014 she was transferred to Namibia, where she was diagnosed with aplastic anemia (AA) and treated with 2 cycles of cyclosporine and antithymocyte globulin (ATG), and subsequently becoming transfusion independent until April 2017. At that point, due to pancytopenia, a new bone marrow aspirate was performed, showing dysgranulopoiesis, dyserythropoiesis and dysplasia. She was then sent to Portugal for diagnostic and treatment purposes. Upon arrival she presented with normal growth and development. The complete blood count showed severe anemia (hemoglobin 4.5g/dL), mild neutropenia (1290 neutrophils/µL) and moderate thrombocytopenia (83000 platelets/µL). Infectious disease were excluded, including malaria, tuberculosis and viral serologic tests. The initial bone marrow aspirate showed less than 10% dysplastic erythroid cells and 5% myeloblasts. Since MDS was not confirmed, a second bone marrow aspirate was obtained, which revealed significant dyserythropoiesis and dysmegakaryopoiesis, as well as monosomy 7 in FISH analysis, compatible with a diagnosis of MDS. She is currently scheduled to undergo allogeneic hematopoietic stem cell transplantation.
Conclusion
We present a case of a patient with a probable diagnosis of acquired aplastic anemia and secondary MDS. We can only speculate about the underlying etiology of the AA. Quinine can be associate with the development of aplastic anemia. Patients treated with immunosuppressive therapy have an increased risk of developing clonal hematopoietic disorders, with MDS being one of the most frequent, although there’s no conclusive evidence that cyclosporine and ATG increase the risk for secondary MDS. The underlying dyspoiesis of aplastic anemia is the most acceptable reason for MDS in the current literature. Monosomy 7 is the most frequent cytogenetic alteration in children with MDS and is associated with a poor outcome, making allogeneic hematopoietic stem cell transplantation the treatment of choice.
Session topic: 10. Myelodysplastic syndromes – Clinical
Abstract: PB2113
Type: Publication Only
Background
Myelodysplastic syndrome (MDS) in children is rare and accounts for less than 5% of hematopoietic malignancies in childhood. Most are secondary to cytotoxic therapy, inherited bone marrow failure disorders or acquired severe aplastic anemia. Abnormalities in chromosome 7 are seen both in de novo and therapy-related MDS.
Aims
We aim to present a case of a child with a rare diagnosis of secondary MDS.
Methods
Clinical case presentation.
Results
A 4 year-old female child from Angola presented with pancytopenia in 2014. She was first treated with quinine and clindamycin due to an ongoing malaria endemic outbreak, although the diagnosis was not confirmed, and later with ceftriaxone, cloxacillin, meropenem and fluconazole for persistent fever and high inflammatory levels. In July 2014 she was transferred to Namibia, where she was diagnosed with aplastic anemia (AA) and treated with 2 cycles of cyclosporine and antithymocyte globulin (ATG), and subsequently becoming transfusion independent until April 2017. At that point, due to pancytopenia, a new bone marrow aspirate was performed, showing dysgranulopoiesis, dyserythropoiesis and dysplasia. She was then sent to Portugal for diagnostic and treatment purposes. Upon arrival she presented with normal growth and development. The complete blood count showed severe anemia (hemoglobin 4.5g/dL), mild neutropenia (1290 neutrophils/µL) and moderate thrombocytopenia (83000 platelets/µL). Infectious disease were excluded, including malaria, tuberculosis and viral serologic tests. The initial bone marrow aspirate showed less than 10% dysplastic erythroid cells and 5% myeloblasts. Since MDS was not confirmed, a second bone marrow aspirate was obtained, which revealed significant dyserythropoiesis and dysmegakaryopoiesis, as well as monosomy 7 in FISH analysis, compatible with a diagnosis of MDS. She is currently scheduled to undergo allogeneic hematopoietic stem cell transplantation.
Conclusion
We present a case of a patient with a probable diagnosis of acquired aplastic anemia and secondary MDS. We can only speculate about the underlying etiology of the AA. Quinine can be associate with the development of aplastic anemia. Patients treated with immunosuppressive therapy have an increased risk of developing clonal hematopoietic disorders, with MDS being one of the most frequent, although there’s no conclusive evidence that cyclosporine and ATG increase the risk for secondary MDS. The underlying dyspoiesis of aplastic anemia is the most acceptable reason for MDS in the current literature. Monosomy 7 is the most frequent cytogenetic alteration in children with MDS and is associated with a poor outcome, making allogeneic hematopoietic stem cell transplantation the treatment of choice.
Session topic: 10. Myelodysplastic syndromes – Clinical