Clonal evolution in aplastic anemia

MG Afable, RV Tiu… - Hematology 2010, the …, 2011 - ashpublications.org
Hematology 2010, the American Society of Hematology Education …, 2011ashpublications.org
Current immunosuppressive treatment (IST) induces remissions in 50%-70% of patients with
aplastic anemia (AA) and result in excellent long-term survival. In recent years, the survival
of refractory patients has also improved. Apart from relapse and refractoriness to IST,
evolution of clonal diseases, including paroxysmal nocturnal hemoglobinuria and
myelodysplastic syndrome (MDS), are the most serious long-term complications and
constitute a strong argument for definitive therapy with BM transplantation if possible …
Abstract
Current immunosuppressive treatment (IST) induces remissions in 50%-70% of patients with aplastic anemia (AA) and result in excellent long-term survival. In recent years, the survival of refractory patients has also improved. Apart from relapse and refractoriness to IST, evolution of clonal diseases, including paroxysmal nocturnal hemoglobinuria and myelodysplastic syndrome (MDS), are the most serious long-term complications and constitute a strong argument for definitive therapy with BM transplantation if possible. Consequently, the detection of diagnostic chromosomal abnormalities (mostly monosomy 7) is of great clinical importance. Newer whole-genome scanning technologies such as single nucleotide polymorphism (SNP) array–based karyotyping may be a helpful diagnostic test for the detection of chromosomal defects in AA due to its precision/resolution and lack of reliance on cell division.
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