Analyzing Mutations in Over 17,000 patients with Myeloid Malignancies

Researchers assessed over 17,000 patient samples analyzed by targeted next generating sequencing (NGS) to discern the somatic mutation status of myeloid neoplasms. The results were presented at the 2022 American Society of Clinical Oncology (ASCO) Annual Meeting.

In this study, 17,181 clinical samples were analyzed and results were applied to cohorts specific to acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and myeloproliferative neoplasms (MPN).

According to the researchers, led by Taylor J. Jenson and colleagues, DNA was extracted and assessed by a targeted NGS panel to pinpoint and detail single nucleotide variants and small indels within 50 genes associated with myeloid malignancies.

According to the results, 34,581 Tier I, II, or III somatic variants were detected, and an increased number of variants was associated with age and observed to be highest in AML patients.

“This study shows that parallel testing of multiple genes in addition to the canonical driver mutations encompasses the mutations contributing to the etiology of these diseases,” the researchers concluded. They added that: “Despite the breadth of different mutations observed for myeloid neoplasms, consistent patterns are routinely observed that can help the clinician tailor the treatment and chart the progression of these diseases for each patient.”