Journal
LEUKEMIA & LYMPHOMA
Volume 62, Issue 5, Pages 1226-1233Publisher
TAYLOR & FRANCIS LTD
DOI: 10.1080/10428194.2020.1861267
Keywords
Acute myeloid leukemia; myelodysplastic syndromes; genetic mutations; variant allele frequency
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sAML and MDS-EB share many similarities, including similar mutation distribution and treatment response. This suggests that they may represent different stages or lineages of the same disease.
Secondary acute myeloid leukemia (sAML) is biologically and clinically distinct from de novo AML and shares specific genetic mutations with myelodysplastic syndromes (MDS). We retrospectively analyzed data from 295 adults with MDS or AML with mutational analysis by next-generation sequencing (NGS), and examined differences in functional grouping of mutations and relation between morphologic blast count and variant allele frequency (VAF) of mutations. Our analysis showed the distribution of mutations differed in MDS and AML. However, these differences largely disappeared when we compared MDS with excess blasts (MDS-EB) and sAML. VAF of mutations generally did not correlate with morphologic blast count and the distribution of VAF was similar above and below the 20% cutpoint. Complete remission (CR) rate was similar in MDS-EB and sAML following high intensity therapy and survival was also similar. These results support that MDS-EB and sAML have overlapping features and may represent a spectrum of the same disease.
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