The value of clinical genomics in people with myelodysplastic syndromes (MDS) was demonstrated in a study involving 89 individuals.

Investigators looked at incidence and prognostic significance of somatic mutations in participants with MDS who underwent allogeneic hematopoietic cell transplant. Among the results:

• The 3 most common MDS subtypes were RAEB-1 (35%), RAEB-2 (29%), and RCMD (18%).
• Nine in every 10 patients received fludarabine plus intravenous busulfan.
• Somatic mutations were seen in 44% of samples.
• The 6 most common gene mutations were ASXL1 (8%), DNMT3A (8%), RUNX1 (7%), KRAS (6%), IDH2 (4%), and TP53 (4%).
• TP53 and IDH2 mutations predicted inferior 3-year overall survival.

The authors noted that the low incidence of mutations could be because azacytidine had been used previously in 82% of cases. They added that TP53 and IDH2 should be targets for pre- or post-transplant therapy.