Marrow ring sideroblasts are highly predictive for TP53 mutation in MDS with excess blasts

Swoboda, David M; Kanagal‐Shamanna, Rashmi; Brunner, Andrew M.; Cluzeau, Thomas; Chan, Onyee; Ali, Najla Al; Montalban‐Bravo, Guillermo; Gesiotto, Quinto; Gavralidis, Alexander; Hunter, Anthony M.; Lee, Jung-Hoon; Kuykendall, Andrew; Talati, Chetasi; Sweet, Kendra; Lancet, Jeffrey E.; Padron, Eric; Hussaini, Mohammad; Song, Jinming; Komrokji, Rami; Sallman, David A.

doi:10.1038/s41375-021-01486-w

Cited by 5 publications

(5 citation statements)

References 15 publications

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“…To date, at least two papers have reported more frequent TP53 mutations in SF3B1 mutation‐negative MDS‐RS patients. Under the premise that SF3B1wt MDS‐RS must possess ≥15% of RS, Malcovati et al reported nine out of 93 patients without aberrant SF3B1‐mutated MDS‐RS had TP53 mutations 5 . Our paper reported that 21 of 64 MDS‐RS patients who did not have SF3B1 mutations harboured TP53 mutations, and this number greatly exceeds those with ASXL1 and RUNX1 mutations (9 patients each).…”

Section: Mds‐rs With Sf3b1 Mutations a Mds‐rs With Tp53 Mutations B M...mentioning

confidence: 50%

“…Under the premise that SF3B1wt MDS‐RS must possess ≥15% of RS, Malcovati et al reported nine out of 93 patients without aberrant SF3B1‐mutated MDS‐RS had TP53 mutations. 5 Our paper reported that 21 of 64 MDS‐RS patients who did not have SF3B1 mutations harboured TP53 mutations, and this number greatly exceeds those with ASXL1 and RUNX1 mutations (9 patients each). Given the findings in the last 10 years that indicated that the TP53 gene family participates in iron metabolism and ferroptosis development in some disorders, whether and how TP53 participates in MDS‐RS development warrants further investigation.…”

Section: Tablementioning

confidence: 74%

“…Malcovati et al 4 ever reported that TP53 mutation was the most common mutation in MDS‐RS without SF3B1 mutations (9 of 93 cases) in 2015, and these TP53 mutations showed some different characteristics on Exon locus and mutant styles when compared to ordinary TP53‐mutated MDS. Swoboda et al 5 recently reported that over half of those with wild type of SF3B1 appeared TP53 mutations and poor survival in a total 218 MDS cases with ≥5% of RS. Thus, in this study, we aimed to describe and discuss the genetic features of Chinese MDS‐RS patients who do not harbour SF3B1 mutations.…”

Section: Mds‐rs With Sf3b1 Mutations a Mds‐rs With Tp53 Mutations B M...mentioning

confidence: 99%

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Somatic mutations in SF3B1 aberrant‐negative MDS‐RS most commonly involved in TP53 genes

et al. 2022

J Cellular Molecular Medi

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Section: Mds‐rs With Sf3b1 Mutations a Mds‐rs With Tp53 Mutations B M...mentioning

confidence: 50%

Section: Tablementioning

confidence: 74%

Section: Mds‐rs With Sf3b1 Mutations a Mds‐rs With Tp53 Mutations B M...mentioning

confidence: 99%

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Somatic mutations in SF3B1 aberrant‐negative MDS‐RS most commonly involved in TP53 genes

et al. 2022

J Cellular Molecular Medi

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“…Recently, Swoboda et al studied bone marrow ring sideroblast percentage and its correlation with TP53 mutational state in patients diagnosed of MDS with excess blasts [ 146 ]. After analyzing 218 patients with MDS with ring sideroblasts ≥5%, investigators suggested SF3B1 -unmutated MDS-RS as a distinct entity to the mutant counterpart characterized by increased prevalence of MDS with excess blasts, complex karyotype, lower peripheral blood counts, and TP53 mutation.…”

Section: Clonal Sideroblastic Anemiasmentioning

confidence: 99%

Causes and Pathophysiology of Acquired Sideroblastic Anemia

Rodríguez‐Sevilla

Calvo

Arenillas

2022

Genes

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The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia and the presence of ring sideroblasts in the bone marrow. Ring sideroblasts are abnormal erythroblasts with iron-loaded mitochondria that are visualized by Prussian blue staining as a perinuclear ring of green-blue granules. The mechanisms that lead to the ring sideroblast formation are heterogeneous, but in all of them, there is an abnormal deposition of iron in the mitochondria of erythroblasts. Congenital sideroblastic anemias include nonsyndromic and syndromic disorders. Acquired sideroblastic anemias include conditions that range from clonal disorders (myeloid neoplasms as myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms with ring sideroblasts) to toxic or metabolic reversible sideroblastic anemia. In the last 30 years, due to the advances in genomic techniques, a deep knowledge of the pathophysiological mechanisms has been accomplished and the bases for possible targeted treatments have been established. The distinction between the different forms of sideroblastic anemia is based on the study of the characteristics of the anemia, age of diagnosis, clinical manifestations, and the performance of laboratory analysis involving genetic testing in many cases. This review focuses on the differential diagnosis of acquired disorders associated with ring sideroblasts.

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“…According to a recent large-scale genetic profiling study on MDS with RS, focusing on SF3B1-wild type (WT) patients, the group found that in SF3B1-wt patients, the most frequent mutation was TP53 at 61% (n = 92). 14 …”

Section: Comparison Between Acquired Clonal (Neoplastic) Cases and No...mentioning

confidence: 99%

Acquired Sideroblastic Anemia: An exploratory Comparative Statistical Analysis Between Clonal and Non-clonal cases

Soliman

Kohla²,

Fareed³

et al. 2022

Mediterr J Hematol Infect Dis

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Sideroblastic anemia (SA) is a rare heterogenous group of inherited and acquired bone marrow disorders. We retrospectively studied the clinicopathologic characteristics, cytogenetic findings, and disease outcome of patients with acquired sideroblastic anemia (ASA) and performed a comparative analysis between clonal and non-clonal cases. 15 patients of ASA were detected: clonal SA (10 cases, 66.7%) including MDS, MDS/MPN, AML and t-MNs with ring sideroblasts) and SA secondary to non-clonal causes (5 cases; 33.3%), including copper deficiency (2 sideroblastic anemia, copper deficiency, non-clonal sideroblastic anemia cases), pyridoxine deficiency diagnosed during pregnancy, and 2 patients with idiopathic SA.Key Keywords: sideroblastic anemia, copper deficiency, non-clonal sideroblastic anemia

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Marrow ring sideroblasts are highly predictive for TP53 mutation in MDS with excess blasts

Cited by 5 publications

References 15 publications

Somatic mutations in SF3B1 aberrant‐negative MDS‐RS most commonly involved in TP53 genes

Somatic mutations in SF3B1 aberrant‐negative MDS‐RS most commonly involved in TP53 genes

Causes and Pathophysiology of Acquired Sideroblastic Anemia

Acquired Sideroblastic Anemia: An exploratory Comparative Statistical Analysis Between Clonal and Non-clonal cases

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