Can the presence of elevated ring sideroblasts (20%) on a bone marrow biopsy without dysplastic changes or suspicious molecular mutations still be indicative of an underlying MDS in a patient with unexplained anemia?
Normal cytogenetics/FISH and negative NGS.
Answer from: at Academic Institution
It is easy to forget that this clinical presentation was the rule not the exception in the pre-genomic era. We knew then that idiopathic sideroblastic anemia could be congenital or acquired due to drugs, toxins or disorders of porphyrin or hemoglobin synthesis, or could rarely be clonal (using G6PD ...