Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition

Two Italian patients with the initial clinical diagnosis of Rothmund-Thomson syndrome were negative for RECQL4 mutations but showed in peripheral blood cells a spontaneous chromosomal instability significantly higher than controls. Revisiting after time their phenotype, suggestive matching autosomal dominant Poikiloderma, Hereditary Fibrosing Tendon Contracture, Myopathy and Pulmonary fibrosis (POIKTMP) was confirmed by identification c.1879A>G (p.Arg627Gly) alteration FAM111B. We compare overall signs our those reported carriers same mutation present up-to-date mutational repertoire FAM111B related phenotypic spectrum. Our snapshot highlights age-dependent expressivity POIKTMP need to follow-up monitor multi-tissue impairment caused alterations. link data role cancer predisposition, pointed out its implication DNA-repair pathways outcome pancreatic 2 17 adult patients. The herein highlighted well connects cancer-predisposing syndromes, such as which represents first hereditary poikiloderma entering differential POIKTMP.