Dynamics of mutation and prognostic relevance in patients with primary myelodysplastic syndrome.

BACKGROUND

gene mutation has been associated with poor prognosis in acute myeloid leukemia, but its clinical implications in myelodysplastic syndrome (MDS) and dynamic changes during disease progression remain controversial.

RESULTS

In this study, mutation was identified in 7.9% of 469 de novo MDS patients. -mutated patients had higher platelet counts at diagnosis, and patients with ring sideroblasts had the highest incidence of mutations, whereas those with multilineage dysplasia had the lowest incidence. Thirty-one (83.8%) of 37 -mutated patients had additional molecular abnormalities at diagnosis, and mutation was highly associated with mutations of and . Patients with mutations had a higher risk of leukemia transformation and shorter overall survival. Further, mutation was an independent poor prognostic factor irrespective of age, IPSS-R, and genetic alterations. The sequential study demonstrated that the original mutations were retained during follow-ups unless allogeneic hematopoietic stem cell transplantation was performed, while mutation was rarely acquired during disease progression.

CONCLUSIONS

mutation predicts unfavorable outcomes in MDS and was stable during disease evolutions. It may thus be a potential biomarker to predict prognosis and monitor the treatment response.