To the best of our knowledge, this is the first study assessing the DIS3 mutational status by means of NGS technology in a large cohort of patients including different molecular subtypes and phases (also leukemic stages) of PC dyscrasias and comprehensively evaluating it in the context of other molecular features, and determining the transcriptional profiles and putative altered pathways in mutated MM patients. The gene discussed is DIS3; the disease is pachyonychia congenita.