SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts
Open accessAbstract
Key Points: In MDS with ring sideroblasts, SF3B1 mutation defines a homogeneous subgroup with isolated erythroid dysplasia and favorable prognosis. MDS with ring sideroblasts and wild-type SF3B1 is mainly characterized by multilineage dysplasia and unfavorable prognosis.
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Mutations driving aberrant iron accumulation in MDS-RS, such as SF3B1 mutation, rarely cooccur with TP53 mutations.
“mutations driving aberrant iron accumulation in MDS-RS, such as SF3B1 mutation, rarely cooccur with TP53 mutations (43).”
From Eprenetapopt triggers ferroptosis, inhibits NFS1 cysteine desulfurase, and synergizes with serine and glycine dietary restriction (2022) · cites this paper as [43]
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“The importance of this point is highlighted by the fact that mutations driving aberrant iron accumulation in MDS-RS, such as SF3B1 mutation, rarely cooccur with TP53 mutations ( 43 ).”
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- Authors
- Malcovati, L., Karimi, M., Papaemmanuil, E., Ambaglio, I., Jädersten, M., Jansson, M., Elena, C., Gallì, A., Walldin, G., Della Porta, M. G., Raaschou-Jensen, K., Travaglino, E., Kallenbach, K., Pietra, D., Ljungström, V., Conte, S., Boveri, E., Invernizzi, R., Rosenquist, R., Campbell, P. J., Cazzola, M., & Hellström Lindberg, E.
- Affiliations
- University of Pavia (IT)
- Karolinska University Hospital (SE)
- Wellcome Sanger Institute (GB)
- Policlinico San Matteo Fondazione (IT)
- Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy;
- Department of Hematology and
- Copenhagen University Hospital (DK)
- Uppsala University (SE)
- Department of Pathology, and
- Center for Hematology and Regenerative Medicine, Karolinska University Hospital, Stockholm, Sweden;
- ORCID
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2015-07-09
- Volume
- 126
- Issue
- 2
- Pages
- 233-241
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- PMC
- PMC4528082
- OpenAlex
- W1889574318
- Cited by
- 434
- References
- 40
- Citations by year
- 2026: 15 · 2025: 26 · 2024: 30 · 2023: 29 · 2022: 43 · 2021: 39 · 2020: 64 · 2019: 43 · 2018: 43 · 2017: 52 · 2016: 36 · 2015: 13
- FWCI
- 37.74
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Blood (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
- Keywords
- SF3B1 mutation, myelodysplastic syndrome, ring sideroblasts, refractory anemia with ringed sideroblasts, refractory cytopenia with multilineage dysplasia, splicing factor mutations, prognostic factors, overall survival, disease progression, TP53 mutation, multilineage dysplasia, subclonal mutations, erythroid dysplasia
- MeSH terms
- RNA Splicing Factors, Adolescent, Adult, Aged, Aged, 80 and over, Anemia, Sideroblastic, Diagnosis, Differential, Female, Humans, Male, Middle Aged, Mutation, Myelodysplastic Syndromes, Phosphoproteins, Prognosis, Ribonucleoprotein, U2 Small Nuclear, Young Adult
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