Ring sideroblasts and sideroblastic anemias

Cazzola, Mario; Invernizzi, Rosangela

doi:10.3324/haematol.2011.044628

Cited by 69 publications

(66 citation statements)

References 21 publications

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“…In many patients with myelodysplastic/myeloproliferative neoplasm (MDS/MPN) and myelodysplastic syndrome (MDS), various frequencies of RS can be found when stained with Prussian blue. 1 The finding of 415% RS together with the appropriate morphologic and cytogenetic criteria is consistent with the diagnosis of refractory anemia with RS (RARS). 2 RS can be also found in a form of MDS/MPN called refractory anemia with RS associated with marked thrombocytosis (RARS-T).…”

mentioning

confidence: 71%

SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts

et al. 2011

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mentioning

confidence: 71%

SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts

et al. 2011

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“…28 The iron of ring sideroblasts is stored in mitochondrial ferritin, 28 encoded by the FTMT gene, which is typically overexpressed in RARS. 29,30 The sideroblastic anemias include both hereditary and acquired conditions, and the most common acquired forms are RARS and RARS-T. 31 RARS is characterized by erythroid dysplasia and ineffective erythropoiesis, and its clinical course is stable for years in most cases with a low risk of leukemic evolution. 32,33 CD34 ϩ cells from patients with RARS have a particular gene expression profile characterized by overexpression of mitochondria-related genes and, in particular, genes involved in heme synthesis (eg, ALAS2), 34 and reduced expression of ABCB7, a gene encoding a protein involved in the transport of iron/sulfur clusters from mitochondria to the cytoplasm.…”

Section: Discussionmentioning

confidence: 99%

Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms

Malcovati

Papaemmanuil

Bowen

et al. 2011

Blood

451

350

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In a previous study, we identified somatic mutations of SF3B1, a gene encoding a core component of RNA splicing machinery, in patients with myelodysplastic syndrome (MDS). Here, we define the clinical significance of these mutations in MDS and myelodysplastic/myeloproliferative neoplasms (MDS/MPN). The coding exons of SF3B1 were screened using massively parallel pyrosequencing in patients with MDS, MDS/MPN, or acute myeloid leukemia (AML) evolving from MDS. Somatic mutations of SF3B1 were found in 150 of 533 (28.1%) patients with MDS, 16 of 83 (19.3%) with MDS/MPN, and 2 of 38 (5.3%) with AML. There was a significant association of SF3B1 mutations with the presence of ring sideroblasts (P < .001) and of mutant allele burden with their proportion (P = .002). The mutant gene had a positive predictive value for ring sideroblasts of 97.7% (95% confidence interval, 93.5%-99.5%). In multivariate analysis including established risk factors, SF3B1 mutations were found to be independently associated with better overall survival (hazard ratio = 0.15, P = .025) and lower risk of evolution into AML (hazard ratio = 0.33, P = .049). The close association between SF3B1 mutations and disease phenotype with ring sideroblasts across MDS and MDS/MPN is consistent with a causal relationship. Furthermore, SF3B1 mutations are independent predictors of favorable clinical outcome, and their incorporation into stratification systems might improve risk assessment in MDS.

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“…47 RARS is characterized by the accumulation of iron in mitochondria and by the overexpression of mitochondrial ferritin, which is encoded by the FTMT gene. 42,44,48 The molecular basis of RARS has been very recently deciphered in a study based on the use of massively parallel sequencing technology to identify somatically acquired point mutations across all protein-coding exons. 49 Recurrent somatically acquired mutations were identified in SF3B1, a gene encoding an RNA-splicing factor, implicating abnormalities of mRNA splicing,…”

Section: Molecular Basis Of Rars and Rars-tmentioning

confidence: 99%

“…41,42 Ring sideroblasts are erythroblasts with iron-loaded mitochondria that are visualized by Prussian blue staining as a perinuclear ring of blue granules. 43 Most of the iron deposited in these perinuclear mitochondria of ring sideroblasts is present in the form of mitochondrial ferritin.…”

Section: Refractory Anemia With Ring Sideroblasts Associated With Marmentioning

confidence: 99%

Myelodysplastic/Myeloproliferative Neoplasms

Cazzola¹,

Malcovati²,

Invernizzi

2011

Hematology

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According to the World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues, myelodysplastic/myeloproliferative neoplasms are clonal myeloid neoplasms that have some clinical, laboratory, or morphologic findings that support a diagnosis of myelodysplastic syndrome, and other findings that are more consistent with myeloproliferative neoplasms. These disorders include chronic myelomonocytic leukemia, atypical chronic myeloid leukemia (BCR-ABL1 negative), juvenile myelomonocytic leukemia, and myelodysplastic/ myeloproliferative neoplasms, unclassifiable. The best characterized of these latter unclassifiable conditions is the provisional entity defined as refractory anemia with ring sideroblasts associated with marked thrombocytosis. This article focuses on myelodysplastic/myeloproliferative neoplasms of adulthood, with particular emphasis on chronic myelomonocytic leukemia and refractory anemia with ring sideroblasts associated with marked thrombocytosis. Recent studies have partly clarified the molecular basis of these disorders, laying the groundwork for the development of molecular diagnostic and prognostic tools. It is hoped that these advances will soon translate into improved therapeutic approaches.

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Ring sideroblasts and sideroblastic anemias

Cited by 69 publications

References 21 publications

SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts

SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts

Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms

Myelodysplastic/Myeloproliferative Neoplasms

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