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SF3B1 mutation iden...
SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts
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Malcovati, Luca (författare)
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- Karimi, Mohsen (författare)
- Karolinska Institutet
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Papaemmanuil, Elli (författare)
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visa fler...
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Ambaglio, Ilaria (författare)
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- Jadersten, Martin (författare)
- Karolinska Institutet
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- Jansson, Monika (författare)
- Karolinska Institutet
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Elena, Chiara (författare)
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Galli, Anna (författare)
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Walldin, Gunilla (författare)
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Della Porta, Matteo G. (författare)
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Raaschou-Jensen, Klas (författare)
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Travaglino, Erica (författare)
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Kallenbach, Klaus (författare)
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Pietra, Daniela (författare)
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- Ljungström, Viktor (författare)
- Uppsala universitet,Experimentell och klinisk onkologi
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Conte, Simona (författare)
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Boveri, Emanuela (författare)
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Invernizzi, Rosangela (författare)
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- Rosenquist, Richard Brandell (författare)
- Uppsala universitet,Experimentell och klinisk onkologi
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Campbell, Peter J. (författare)
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Cazzola, Mario (författare)
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- Lindberg, Eva Hellstrom (författare)
- Karolinska Institutet
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(creator_code:org_t)
- American Society of Hematology, 2015
- 2015
- Engelska.
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Ingår i: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 126:2, s. 233-241
- Relaterad länk:
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https://ashpublicati...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- Refractory anemia with ring sideroblasts (RARS) is a myelodysplastic syndrome (MDS) characterized by isolated erythroid dysplasia and 15% or more bone marrow ring sideroblasts. Ring sideroblasts are found also in other MDS subtypes, such as refractory cytopenia with multilineage dysplasia and ring sideroblasts (RCMD-RS). A high prevalence of somatic mutations of SF3B1 was reported in these conditions. To identify mutation patterns that affect disease phenotype and clinical outcome, we performed a comprehensive mutation analysis in 293 patients with myeloid neoplasm and 1% or more ring sideroblasts. SF3B1 mutations were detected in 129 of 159 cases (81%) of RARS or RCMD-RS. Among other patients with ring sideroblasts, lower prevalence of SF3B1 mutations and higher prevalence of mutations in other splicing factor genes were observed (P < .001). In multivariable analyses, patients with SF3B1 mutations showed significantly better overall survival (hazard ratio [HR], .37; P = .003) and lower cumulative incidence of disease progression (HR = 0.31; P = .018) compared with SF3B1-unmutated cases. The independent prognostic value of SF3B1 mutation was retained in MDS without excess blasts, as well as in sideroblastic categories (RARS and RCMD-RS). Among SF3B1-mutated patients, coexisting mutations in DNA methylation genes were associated with multilineage dysplasia (P = .015) but had no effect on clinical outcome. TP53 mutations were frequently detected in patients without SF3B1 mutation, and were associated with poor outcome. Thus, SF3B1 mutation identifies a distinct MDS subtype that is unlikely to develop detrimental subclonal mutations and is characterized by indolent clinical course and favorable outcome.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
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Blood
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Till lärosätets databas
- Av författaren/redakt...
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Malcovati, Luca
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Karimi, Mohsen
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Papaemmanuil, El ...
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Ambaglio, Ilaria
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Jadersten, Marti ...
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Jansson, Monika
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visa fler...
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Elena, Chiara
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Galli, Anna
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Walldin, Gunilla
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Della Porta, Mat ...
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Raaschou-Jensen, ...
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Travaglino, Eric ...
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Kallenbach, Klau ...
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Pietra, Daniela
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Ljungström, Vikt ...
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Conte, Simona
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Boveri, Emanuela
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Invernizzi, Rosa ...
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Rosenquist, Rich ...
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Campbell, Peter ...
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Cazzola, Mario
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Lindberg, Eva He ...
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visa färre...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Hematologi
- Artiklar i publikationen
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Blood
- Av lärosätet
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Uppsala universitet
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Karolinska Institutet