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Haematological malignancies

440 - Clinical relevance of genetic mutation on treatment response to demethylating agents in myelodysplastic syndromes


21 Dec 2015


Haematological malignancies


Hyun Ae Jung


Annals of Oncology (2015) 26 (suppl_9): 85-92. 10.1093/annonc/mdv526


H.A. Jung1, J.H. Jang2

Author affiliations

  • 1 Department Of Medidine, Dongtan Sacred Heart Hospital, 445-907 - HwaSeong-Si/KR
  • 2 Department Of Medidine, Samsung Medical Center Sungkyunkwan University School of Medicine, 135-710 - Seoul/KR

Abstract 440


In the post-epigenetic therapy era, treatment approaches for patients with MDS have improved significantly over the last decade, especifically, in terms of quality of life and leukemic transformation and survival. Unlike, conventional chemotherapy, it often takes several cycles of hypomethylating agent to visualize the effect of the therapy. However, previous study had heterogenous study populations and had low response rate to hypomethylating agent. We investigate the prevalence of recurrent genetic mutations in de novo MDS patients and elucidate the prognostic and predictive role of mutations on the 1st line decitabine treatment in MDS.


We investigated genes including methylating machinery genes (TET3 and DNMT2) by Sanger sequencing in patients who were diagnosed with de novo MDS at Samsung medical Center between June 2008 and December 2011 and who were treated with 1st line 5-day regimen of decitabine treatment.


We analyzed clinical data including treatment outcomes in 70 patients (total 290 cycles). The overall response (complete remission, partial remission, marrow complete remission and hematologic improvement) rate was 52.5%. The median time to any response was two (range 1-6). Patients who showed hematologic improvements had significantly longer survival than those who did not (9.8 vs 22.9 months, P-value = 0.004). The prevalence of mutations in the methylating machinery genes were 17.1% (N = 12). In the baseline characteristic between wild type and mutated genes, there was no significant difference. The overall response rate was significantly higher in the patient who had the mutations in methylating machinery genes (43.1% vs 83.3%, P-value = 0.023).


The current results showed that methylating machinery gene TET2MUT, DNMT3AMUT had clinical relevance as preditive biomarker for hypomethylating agents.

Clinical trial identification


All authors have declared no conflicts of interest.

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