Together with our study, 15 missense mutations (71.4%, PEX1 = 4/8, PEX6 = 8/10, PEX26 = 3/3), four frameshift mutations (19.0%, PEX1 = 2/8, PEX6 = 2/10), one nonsense mutation (4.8%, PEX1 = 1/8), and one splicing mutation (4.8%, PEX1 = 1/8) have been reported to be associated with HS. Here, PEX6 is linked to histiocytic sarcoma.