Analysis of common gene mutations and cytogenetics in core binding factor related acute myeloid leukemia
10.3760/cma.j.issn.1009-9921.2016.07.004
- VernacularTitle:核心结合因子相关性急性髓系白血病常见基因突变和细胞遗传学分析
- Author:
Yaqing FENG
;
Yongping YANG
;
Yanfang ZHANG
;
Xi LIU
;
Lidong ZHANG
- Publication Type:Journal Article
- Keywords:
Leukemia,myeloid,acute;
Core binding factor;
c-Kit;
FLT3;
Cytogenetics
- From:
Journal of Leukemia & Lymphoma
2016;25(7):399-401
- CountryChina
- Language:Chinese
-
Abstract:
Objective To assess the prevalence of c-Kit and FLT3 gene mutations in core binding factor related acute myeloid leukemia (CBF-AML) and analyze the karyotype characteristics of the CBF-AML patients. Methods Mutations of c-Kit, FLT3-ITD and FLT3-TKD were detected by genomic DNA PCR and sequencing, and the karyotype changes were analyzed in 48 newly diagnosed CBF-AML patients. Results c-Kit aberrations were detected in 13(27.1 %) out of 48 patients, including 5 cases with exon 8 mutation and 8 cases with exon 17 mutation. c-Kit was more prominent in t(8;21) AML patients than in inv(16) AML patients [(33.3 %(9/27) vs 19.0 %(4/21), P<0.05]. Only 1 case (2.1 %) had FLT3-ITD mutation (FLT3-ITD+) and 3 cases (6.3 %) had FLT3-TKD mutation (FLT3-TKD +). Prevalence of RUNX1-RUNX1T1 with additional chromosome abnormality was as high as 25.9 %(7/27), in which sex chromosome elimination was the most common one, while prevalence of CBFβ-MYH11 with additional chromosome abnormality was low. Conclusion c-Kit gene mutations and RUNX1-RUNX1T1 additional chromosome abnormalities are common in patients with CBF-AML and would be helpful for individualized treatment studies.
