Comparison of myeloid blast counts and variant allele frequencies of gene mutations in myelodysplastic syndrome with excess blasts and secondary acute myeloid leukemia

2020 ◽  
pp. 1-7
Author(s):  
Xueyan Chen ◽  
Megan Othus ◽  
Brent L. Wood ◽  
Roland B. Walter ◽  
Pamela S. Becker ◽  
...  
Author(s):  
Ming Liu ◽  
Fang Wang ◽  
Yang Zhang ◽  
Xue Chen ◽  
Panxiang Cao ◽  
...  

Aim: This study aimed to investigate the regularity of gene mutations in patients with myelodysplastic syndrome (MDS) and in those that progressed to acute myeloid leukemia (MDS/AML). Patients & methods: High-throughput sequencing technology was used to detect gene mutations in 99 newly diagnosed patients with MDS or MDS/AML. Results: Gene mutations were detected in 88 patients. The mutation incidence in the MDS/AML group was significantly higher than that in the MDS group. Statistically significant differences were observed between the MDS with refractory anemia (MDS-RA) and MDS-RA with excess blasts groups and between the MDS/AML and MDS-RA groups. Conclusion: Our data demonstrate that there is a cumulative accumulation of gene mutations, especially in transcription factor genes, during disease progression in MDS and MDS/AML.


2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Takahiro Kumode ◽  
Ayano Fukui ◽  
Go Eguchi ◽  
Terufumi Yamaguchi ◽  
Yasuhiro Maeda

Elderly patients with secondary acute myeloid leukemia (AML) following myelodysplastic syndrome (MDS) are often medically unfit for or resistant to chemotherapy, and their prognosis is dismal. In the present paper, we reported a case of secondary leukemia following MDS in an 80-year-old male patient who was deemed unfit for chemotherapy owing to his old age and poor physical condition. Despite a high tumor burden, treatment with AZA exerted a remarkable response, leading to an immediate cytoreduction in our case. Our results suggest that AZA can be an attractive therapeutic option for elderly MDS or AML patients, offering adequate efficacy and high tolerability.


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