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About 15% of patients with acquired aplastic anemia (AA) develop myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Whether these secondary disorders originate from de novo mutations or were already extant early in the course of AA has been unclear.
To detect and characterize clonal populations of mutated genes, investigators collected blood, bone marrow, and buccal samples from 439 patients with AA. Targeted sequencing was performed on a panel of 106 genes that included most of those known to be mutated in myeloid cancers. Whole-exome sequencing was used to characterize hematopoietic clonal architecture in serial samples from 82 patients.
A variety of somatic mutations were detected in more than a third of patients, and 36% had …