Coexisting Mutations in IDH1/2-Mutated Acute Myeloid Leukemia.
10.19746/j.cnki.issn.1009-2137.2019.05.014
- Author:
Zhu-Xia JIA
1
;
Hong-Ying CHAO
2
;
Jie LIU
1
;
Xiao-Hui CAI
1
;
Wei QIN
1
;
Pin WU
3
;
Xu-Zhang LU
1
Author Information
1. Department of Hematology, Changzhou Municipal Second People's Hospital Affiliated to Nanjing Medical University, Changzhou 213003, Jiangsu Province, China.
2. Department of Hematology, Changzhou Municipal Second People's Hospital Affiliated to Nanjing Medical University, Changzhou 213003, Jiangsu Province, China,E-mail: chaohy2006@126.com.
3. Department of Hematology, Wuxi Municipal Second People's Hospital, Wuxi 214000, Jiangsu Province, China.
- Publication Type:Journal Article
- MeSH:
Exons;
Humans;
Isocitrate Dehydrogenase;
genetics;
Leukemia, Myeloid, Acute;
genetics;
Mutation;
Prognosis;
Remission Induction
- From:
Journal of Experimental Hematology
2019;27(5):1440-1448
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the coexisting mutations in IDH-mutated acute myeloid leukemia(AML) and its relation with partial clinical parametrs.
METHODS:The exon 4 mutation of IDH1/2 gene was screened by using genome DNA-PCR combined with sanger sequencing, 51 targeted gene mutations in the patients with IDH1/2 mutation were detected by using high throughput DNA sequencing combined with sanger sequencing.
RESULTS:Among 358 patients, the IDH1/2 mutation was found in 46 cases including IDH1 mutation in 35 cases and IDH2 mutation in 11 cases, 97.87%(45/46) patients with IDH1/2 mutation simultaneously carried other gene mutations including 8(17.8%) cases with mutation of double gene, 17(37.8%) cases with mutation of 3 genes and 20(44.4%) cases with mutation of ≥ 4 genes. The mutation frequency of each patient averaged 3.52 times. In mutation of accompanied genes, the common genes were NPM1(n=29, 63.0%), next DNMT3A(n=25, 54.3%), FLT3-ITD(n=7, 15.2%), TET2(n=5, 10.9%) and NRAS(n=5, 10.9%). The average WBC level of patients with NPM1 mutation in IDH1 mutation group was higher than that of patients in wild type group(P<0.05). The complete remission (CR) rate of patients with DNMT3A mutation was significant lower than that of patients with wild type (30% vs 80%, P<0.01). The presence of ≥ 4 mutations was found to be significantly associated with higher white blood level than that in the patients with double mutations(P<0.05).
CONCLUSION:More than 95% AML patients with IDH1/2 mutation commonly show additional mutations. The number and the type of IDH coexisting mutations have certain effect on the clinical features and CR rate.
