mutations were predictive of inferior prognosis in the presence of mutations in patients with chronic myelomonocytic leukemia.

BACKGROUND

Somatic mutations involving epigenetic regulators, histone modification and chromatin regulation, splicing components, transcription factors and signaling regulator genes are common in chronic myelomonocytic leukemia (CMML) patients. It has been consensus that mutations have adversely impact on overall survival (OS), while the effect of mutations remains controversial and undefined.

METHODS

and mutations were analyzed in 141 patients with CMML using Sanger sequencing, with the aim to identify the interplay of and mutations in the prognosis of CMML.

RESULTS

Sixty-five (46.1%) of the CMML patients harbored ASXL1 mutations (frameshift and nonsense), and 46 (32.6%) had TET2 mutations (frame shift, nonsense and missense). In a separate multivariable analysis that included the Mayo Prognostic Model as a single variable along with wt/wt, the respective hazard ratios of mut/mut, mut/wt and wt/mut were 4.7 (95% CI, 2.2-10.3; P<0.001), 2.2 (95% CI, 1.1-4.2; P=0.025) and 1.3 (95% CI, 0.6-2.5; P=0.521).

CONCLUSIONS

Our study showed that mutations predict inferior OS, and additional mutations were associated with poor survival in the presence of mutations of CMML patients.