When SUZ12 is lost, EZH2 acquires an anomalous function, going to carry out its activity through a non-canonical pathway for PRC2 [19], while in our patient we found a reduced expression of the PRC2 targets, which suggests that the complex is more active, and which may make the patient susceptible to the onset of a high number of neurofibromas in relation to his age. Here, EZH2 is linked to plexiform neurofibroma.