The presence of mutation in hematological malignancies, excluding Hairy cell leukemia, and its significance as a driver mutation in myeloid neoplasms (MNs) remains largely understudied. This research aims to evaluate patient characteristics and outcomes of -mutated MNs. Among a cohort of 6667 patients, 48 (0.7%) had -mutated MNs. Notably, three patients exhibited sole mutation, providing evidence supporting the hypothesis of 's role as a driver mutation in MNs. In acute myeloid leukemia, the majority of patients had secondary acute myeloid leukemia, accompanied by poor-risk cytogenic and RAS pathway mutations. Although the acquisition of mutation during disease progression did not correlate with unfavorable outcomes, its clearance through chemotherapy or stem cell transplant exhibited favorable outcomes (median overall survival of 34.8 months versus 10.4 months,  = 0.047). Furthermore, G469A was the most frequently observed mutation, differing from solid tumors and hairy cell leukemia, where V600E mutations were predominant.

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http://dx.doi.org/10.1080/10428194.2024.2347539DOI Listing

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