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Clinical significance of chromatin-spliceosome AML
Discussion
In this study, we challenged a CS-mutational signature14 against conventionally defined sAML and de novo AML patients to seek whether a comparison between related outcomes might provide a basis for implementing current clinical and cytogenetic diagnostic criteria of sAML with molecular information. Importantly, the identification of
patients carrying CS mutations has been allowed by con- ventional methods and by commercially available NGS solutions, which can be easily and cost-effectively imple- mented in the routine diagnostic work-up of AML.20 Since diagnostic uncertainty is higher in cases lacking informa- tive cytogenetics, we focused the search of CS mutations on patients with normal karyotype as these mutations were infrequently associated with abnormalities of chro-
AB
Figure 5. Kaplan-Meier survival analysis according to acute meloid leukemia category. Survival estimates were calculated at 5 years and not censored at allogeneic transplant. (A) Overall survival; CS-AML vs. de novo AML, P<0.0001; sAML vs. de novo AML, P<0.0001; CS-AML vs. sAML, P=0.02. (B) Disease free survival; CSAML vs. de novo AML, P=0.0009; sAML vs. de novo AML, P<0.0001; CS-AML vs. sAML, P=0.32. CS: chromatin-spliceosome; AML: acute myeloid leukemia; sAML: sec- ondary AML; CS-AML: de novo AML carrying the CS mutations.
A
B
C
Figure 6. Simon-Makuch plots of overall survival according to allogeneic hematopoietic stem cell transplant. Transplant was considered as a time- dependent event. Survival estimates were calculated at 5 years from the date of complete remission (CR) after induction chemotherapy. (A) CS-AML, (B) sAML and (C) de novo AML. CS: chromatin-spliceosome; AML: acute myeloid leukemia; sAML: secondary AML; CS-AML: de novo AML carrying the CS mutations.
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