Validation of the international working group proposal for SF3B1 mutant myelodysplastic syndromes
| Autor: | Andrew T. Kuykendall, David A. Sallman, Rami S. Komrokji, Najla Al Ali, David M Swoboda, Eric Padron, Onyee Chan, Virginia O. Volpe |
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| Rok vydání: | 2021 |
| Předmět: |
Male
Immunology Mutant MEDLINE Computational biology Biochemistry Cohort Studies hemic and lymphatic diseases medicine Humans Aged business.industry Myelodysplastic syndromes Basic Local Alignment Search Tool Cell Biology Hematology International working group Phosphoproteins Prognosis medicine.disease Survival Analysis Myelodysplastic Syndromes Mutation Mutation (genetic algorithm) Female RNA Splicing Factors business |
| Zdroj: | Blood. 138:989-992 |
| ISSN: | 1528-0020 0006-4971 |
| Popis: | Komrokji et al examined the proposed international working group proposal to designate SF3B1-mutant myelodysplastic syndrome (MDS) as a unique disease entity, using a single-institution validation cohort of 1779 MDS patients, of whom 320 harbored SF3B1 mutations. They confirmed the demographics of older age, low-risk disease, ring sideroblasts, and low blast percentage. They further confirmed better overall survival that is negatively impacted in those patients with concomitant mutations, high variant allele fraction, and increased blast percentage. |
| Databáze: | OpenAIRE |
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