Comparison of SF3B1/DNMT3A Comutations With DNMT3A or SF3B1 Mutation Alone in Myelodysplastic Syndrome and Clonal Cytopenia of Undetermined Significance.
DNMT3A
SF3B1
SF3B1/DNMT3A
CCUS
MDS
Mutation
Journal
American journal of clinical pathology
ISSN: 1943-7722
Titre abrégé: Am J Clin Pathol
Pays: England
ID NLM: 0370470
Informations de publication
Date de publication:
08 06 2020
08 06 2020
Historique:
pubmed:
1
3
2020
medline:
21
10
2020
entrez:
1
3
2020
Statut:
ppublish
Résumé
To compare the clinical significance of SF3B1/DNMT3A Comutations with SF3B1 or DNMT3A mutation alone in myelodysplastic syndrome (MDS) and clonal cytopenia of undetermined significance (CCUS). We identified and compared 31 patients with only DNMT3A mutation, 48 patients with only SF3B1 mutation, and 16 patients with only SF3B1/DNMT3A comutations. SF3B1/DNMT3A comutations were found to be more common in MDS, whereas DNMT3A mutation alone was more common in CCUS. The patients with SF3B1/DNMT3A comutations were less likely to have poor cytogenetics than patients with DNMT3A mutation alone. Patients with SF3B1/DNMT3A comutations showed significantly longer median survival time and better overall survival than patients with DNMT3A mutation alone. Patients with SF3B1/DNMT3A comutations appear to have better clinical outcomes than patients with isolated DNMT3A mutation. These findings suggest that the favorable prognosis of SF3B1 mutation in is not abrogated by the concurrent presence of a DNMT3A mutation.
Identifiants
pubmed: 32112088
pii: 5766453
doi: 10.1093/ajcp/aqaa016
doi:
Substances chimiques
DNMT3A protein, human
0
Phosphoproteins
0
RNA Splicing Factors
0
SF3B1 protein, human
0
DNA (Cytosine-5-)-Methyltransferases
EC 2.1.1.37
DNA Methyltransferase 3A
EC 2.1.1.37
Types de publication
Comparative Study
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
48-56Informations de copyright
© American Society for Clinical Pathology, 2020. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.