The effects of the PHF6 gene mutation on myeloid neoplasms. A single-center cohort underpinned by a systematic review of literature

Abstract The mutation of the plant homeodomain finger protein 6 gene ( PHF6 MUT ) in patients with myeloid neoplasms (MNs) is rare and appears to play a role in prognosis, though this is still under debate. We conducted a retrospective analysis of a cohort of 313 patients diagnosed with MN. We also performed a systematic review (SR) of the literature to evaluate the prognostic role of PHF6 gene status in MNs. We identified 15 patients with PHF6 MUT . In the multivariate analysis, PHF6 MUT was associated with higher mortality compared to PHF6 wild-type (hazard ratio [HR] = 1.02; 95% confidence interval [CI], 1.00–1.05; p = 0.082), with no apparent impact from other co-mutations. In the multilevel logistic model by MN subtype, the presence of PHF6 MUT (independent of variant allele frequency > 20%) was shown to have a positive coefficient (adverse prognosis) in acute myeloid leukemia; in the remainder of MN, the effect was not significant. PHF6 MUT had a marginal and significant effect compared to PHF6 wild-type cases (HR = 1.02, 95% CI = 1.00-1.05, p = 0.039). There were no significant differences in time to blast transformation or time to next treatment depending on PHF6 gene status. According to the results of most studies published to date (SR), PHF6 MUT has a prognostic role in NMs; our results are consistent in terms of clinical outcomes.