Clinical impacts of the mutational spectrum in Japanese patients with primary myelofibrosis.
Gene mutations
Myeloproliferative neoplasms
Primary myelofibrosis
Prognostic factors
Target resequencing
Journal
International journal of hematology
ISSN: 1865-3774
Titre abrégé: Int J Hematol
Pays: Japan
ID NLM: 9111627
Informations de publication
Date de publication:
Apr 2021
Apr 2021
Historique:
received:
18
07
2020
accepted:
26
11
2020
revised:
26
11
2020
pubmed:
4
1
2021
medline:
22
6
2021
entrez:
3
1
2021
Statut:
ppublish
Résumé
Patients with primary myelofibrosis (PMF) have a poorer prognosis than those with other subtypes of myeloproliferative neoplasms (MPNs). To investigate the relationship between gene mutations and the prognosis of Japanese PMF patients, we analyzed mutations in 72 regions located in 14 MPN-relevant genes (CSF3R, MPL, JAK2, CALR, DNMT3A, TET2, EZH2, ASXL1, IDH1/2, SRSF2, SF3B1, U2AF1, and TP53) utilizing a target resequencing platform. In our cohort, ASXL1 mutations were more frequently detected in both overt and prefibrotic PMF patients than other mutations. The frequency of ASXL1 mutations was slightly higher among overt PMF patients than among prefibrotic PMF patients (44.6% vs 25.0%, FDR = 0.472). Decision tree classification algorithms revealed that ASXL1, EZH2, and SRSF2 mutations were associated with a poor prognosis for overt PMF. Overall survival was significantly shorter in patients harboring ASXL1, EZH2, or SRSF2 mutations than in those without these mutations (p = 0.03). These results suggest that, as reported in Western countries, MIPSS70 is applicable to Japanese PMF patients and ASXL1, EZH2, and SRSF2 mutations may be utilized as surrogate markers of a poor prognosis.
Identifiants
pubmed: 33389584
doi: 10.1007/s12185-020-03054-x
pii: 10.1007/s12185-020-03054-x
doi:
Substances chimiques
Biomarkers
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
500-507Subventions
Organisme : Japan Society for the Promotion of Science
ID : 16K19203
Références
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