Expanding the sample size and using targeted NGS or ddPCR would improve mutation detection sensitivity and could reveal UBA1 canonical and non-canonical variants and more accurately estimate the frequency of VEXAS-related mutations in the MDS population.
Conventional diagnostics could not determine whether the mutant clone was donor- or recipient-derived. Combining transcriptome profiling with targeted U2AF1 enrichment pinpointed the clone's origin and guided a second transplant, leading to remission.
Survival differed significantly among the three etiological groups (χ2=11.53, P=0.003). AEL is a subtype of acute myeloid leukemia with extremely poor prognosis that is highly associated with TP53 gene abnormalities.