Clinical and prognostic profile of SRSF2 and related spliceosome mutations in patients with acute myeloid leukemia.
Acute myeloid leukemia
Mutations
SRSF2
Spliceosome
Journal
Molecular biology reports
ISSN: 1573-4978
Titre abrégé: Mol Biol Rep
Pays: Netherlands
ID NLM: 0403234
Informations de publication
Date de publication:
Aug 2023
Aug 2023
Historique:
received:
09
03
2023
accepted:
15
06
2023
medline:
31
7
2023
pubmed:
22
6
2023
entrez:
21
6
2023
Statut:
ppublish
Résumé
Mutations in splicing factor (SF) genes are frequently detected in myelodysplastic syndrome, but their clinical and prognostic relevance in acute myeloid leukemia (AML) have rarely been reported. A total of 368 newly diagnosed non-M3 AML patients were included in this study. Next generation sequencing including four SF genes was performed on the genomicDNA. The clinical features and survival were analyzed using statistical analysis. We found that 64 of 368 patients harbored SF mutations. The SF mutations were much more frequently found in older or male patients. SRSF2 mutations were shown obviously co-existed with IDH2 mutation. The level of measurable residual disease after first chemotherapy was higher in SF-mutated patients compared to that in SF-wild patients, while the complete remission rate was significantly decreased. And the overall survival of SF-mutated patients was shorter than that of SF-wild patients. Moreover, our multivariable analysis suggests that the index of male, Kit mutation or ZRSR2 mutation was the independent risk factor for overall survival. SRSF2 SF mutation is a distinct subgroup of AML frequently associated with clinic-biological features and poor outcome. SRSF2
Sections du résumé
BACKGROUND
BACKGROUND
Mutations in splicing factor (SF) genes are frequently detected in myelodysplastic syndrome, but their clinical and prognostic relevance in acute myeloid leukemia (AML) have rarely been reported.
METHODS
METHODS
A total of 368 newly diagnosed non-M3 AML patients were included in this study. Next generation sequencing including four SF genes was performed on the genomicDNA. The clinical features and survival were analyzed using statistical analysis.
RESULTS
RESULTS
We found that 64 of 368 patients harbored SF mutations. The SF mutations were much more frequently found in older or male patients. SRSF2 mutations were shown obviously co-existed with IDH2 mutation. The level of measurable residual disease after first chemotherapy was higher in SF-mutated patients compared to that in SF-wild patients, while the complete remission rate was significantly decreased. And the overall survival of SF-mutated patients was shorter than that of SF-wild patients. Moreover, our multivariable analysis suggests that the index of male, Kit mutation or ZRSR2 mutation was the independent risk factor for overall survival. SRSF2
CONCLUSION
CONCLUSIONS
SF mutation is a distinct subgroup of AML frequently associated with clinic-biological features and poor outcome. SRSF2
Identifiants
pubmed: 37344641
doi: 10.1007/s11033-023-08597-w
pii: 10.1007/s11033-023-08597-w
doi:
Substances chimiques
Serine-Arginine Splicing Factors
170974-22-8
RNA Splicing Factors
0
SRSF2 protein, human
147153-65-9
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
6601-6610Subventions
Organisme : National Natural Science Foundation of China
ID : 32241005
Organisme : National Natural Science Foundation of China
ID : 81873439
Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer Nature B.V.
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