JAK-STAT mutations found in patients with hypereosinophilia with myeloid neoplasms
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SAN DIEGO — Researchers found JAK-STAT mutations in a predominance of a cohort of adults with fusion-free hypereosinophilia with features suggesting myeloid neoplasms, according to data presented at ASH Annual Meeting and Exposition.
The data “emphasizes the usefulness” of next-generation sequencing (NGS) panels in the workup, diagnosis and treatment of these patients and could help provide future direction for use of JAK inhibitors, according to a team led by Matthieu Groh, MD, MSc, from the French National Reference Center for Hypereosinophilic Syndromes.
Previous studies had identified gene fusions leading to constitutive activation of tyrosine kinases in myeloid hypereosinophilic syndromes as the first recurrent genetic defects identified in those conditions.
However, JAK-STAT pathway genes had previously not been included in NGSs for hypereosinophilia workup, leading to a custom 149-gene NGS panel performed on a set of 64 adults with hypereosinophilia from 2012 to 2023 including at least one feature suggesting a myeloid neoplasm.
At least one mutation was found in 78% of patients in the experimental group, as opposed to just 18% in the control group, and 35 patients in the experimental group were found to have mutations in the JAK-STAT pathway.
The data also found several “previously unreported molecular alterations,” and suggested that these JAK-STAT mutations were associated with myelodysplasia-related gene mutations. Almost all (94%) patients treated with ruxolitinib (Jakafi, Incyte), most of whom displayed JAK-STAT mutations, responded well to treatment.
Groh’s team suggested that the study “(supports) the use of JAK inhibitors as front-line therapy,” and that future study should be directed in order to assess the potential efficacy of JAK inhibitors in sustaining molecular remission.
Reference:
- Groh M, et al. Involvement of the JAK-STAT pathway in the molecular landscape of fusion-free myeloid neoplasms with eosinophilia. Presented at: ASH Annual Meeting and Exposition; Dec. 9-12, 2023; San Diego.
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