Analysis of common gene mutations and cytogenetics in core binding factor related acute myeloid leukemia / 白血病·淋巴瘤

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.