98%
921
2 minutes
20
Ring sideroblasts are commonly seen in myelodysplastic neoplasms and are a key condition for identifying distinct entities of myelodysplastic neoplasms according to the WHO classification. However, the presence of ring sideroblasts is not exclusive to myelodysplastic neoplasms. Ring sideroblasts are as well either encountered in non-clonal secondary acquired disorders, such as exposure to toxic substances, drug/medicine, copper deficiency, zinc overload, lead poison, or hereditary sideroblastic anemias related to X-linked, autosomal, or mitochondrial mutations. This review article will discuss diseases associated with ring sideroblasts outside the context of myelodysplastic neoplasms. Knowledge of the differential diagnoses characterized by the presence of ring sideroblasts in bone marrow is essential to prevent any misdiagnosis, which leads to delayed diagnosis and subsequent management of patients that differ in the different forms of sideroblastic anemia.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9320983 | PMC |
http://dx.doi.org/10.3390/diagnostics12071752 | DOI Listing |
Zhonghua Nei Ke Za Zhi
September 2025
Department of Hematology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
This report describes the case of a 43-year-old male presenting with severe anemia (hemoglobin, HGB 35 g/L). A comprehensive evaluation encompassing bone marrow morphology (24% ring sideroblasts), genetic testing (SF3B1-negative), iron metabolism studies (ferritin 1 179 μg/L), and imaging (liver MRI T2* value 1.1 ms) was performed for diagnosis, treatment planning, and assessment of outcomes.
View Article and Find Full Text PDFMutations in the RNA splicing factor are among the most common in MDS and are strongly associated with MDS with ring sideroblasts (MDS-RS). While aberrant splicing of terminal erythroid regulators has been implicated in MDS pathogenesis, the impact of mutations on early hematopoietic progenitor function remains unclear. Here, we identify CDK8, a key kinase of the mediator complex involved in transcriptional regulation, as a recurrent mis-spliced target in -mutant MDS.
View Article and Find Full Text PDFJ Med Econ
December 2025
Bristol Myers Squibb, Lawrenceville, NJ, USA.
Background: Erythropoiesis-stimulating agents (ESAs) are an established treatment for lower-risk myelodysplastic syndromes (LR-MDS). However, real-world data on the outcomes of patients with LR-MDS treated with ESAs are limited. This study describes treatment patterns and clinical outcomes in this population.
View Article and Find Full Text PDFZhonghua Xue Ye Xue Za Zhi
July 2025
Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing 100730, China.
To evaluate the efficacy and safety of luspatercept combined with roxadustat in patients with refractory low-risk myelodysplastic neoplasms with ring sideroblasts (MDS-RS) patients. In this single-center, prospective, randomized controlled trial, patients with refractory MDS-RS were randomly assigned in a 1:2 ratio to receive either combination therapy (luspatercept + roxadustat) or luspatercept monotherapy. The primary endpoint was erythroid response at 12 weeks, while secondary endpoints included erythroid response at 24 weeks, achievement of transfusion independence ≥8 weeks within the first 12 weeks, and other hematologic indicators.
View Article and Find Full Text PDFAm J Hematol
August 2025
Department of Immunology and Inflammation, St Mary's Hospital Campus of Imperial College Faculty of Medicine, Centre for Haematology, St Mary's Hospital, London, UK.