Molecular and immunophenotypic profiling of leukemia cutis in acute myeloid leukemia: A retrospective matched-cohort study.

Abstract

Leukemia cutis (LC) is a rare complication of acute myeloid leukemia (AML) and considered a marker of poor prognosis. Molecular and immunophenotypic characteristics of LC remain poorly understood. To investigate molecular and immunophenotypic profiles of AML patients with LC and compare them with AML patients without LC. This retrospective matched-cohort study examined 47 AML patients with LC propensity-matched to 141 AML patients without LC. Frequency of mutations, overall survival, and biomarker concordance between skin and bone marrow samples were analyzed and compared. LC patients showed significant enrichment in mutations including NPM1, FLT3, Trisomy/Gain 8, and NRAS/KRAS. Median overall survival for LC patients was 14.6 months, compared to 23.0 months for AML patients without LC. This difference was not statistically significant, and there were no significant differences when comparing across mutation subgroups. Immunophenotypically, high rates of discordance between skin and bone marrow were observed in CD34 and CD117. Single-center study, limited sample size, and potential unadjusted covariates. The results show enrichment of key mutations and loss of biomarker expression in AML-associated LC without differences in overall survival. This distinct molecular and immunophenotypic profile of LC may have important pathogenic, diagnostic, and prognostic implications.