Neurofibromatosis type 1 is an autosomal dominantly inherited tumour predisposition syndrome, in which inactivating mutations in the neurofibromatosis type 1 gene (NF1) lead to prolonged activation of the signalling via the RAS/RAF/MAPK pathway leading to loss of growth control and increased cellular proliferation. The authors report a case of a 78-year-old man, a carrier of the germline NF1 Ala1224Gly/c.3671 C>G mutation, with ASXL1, ZRSR2, and TET2 mutation-positive blastic plasmacytoid dendritic cell neoplasm (BPDCN). Consistent with previously reported data on the role of the NF1 mutations in the pathogenesis of dendritic cell neoplasms, they suggest that the NF1 germline mutation may also increase the risk of blastic plasmacytoid dendritic cell neoplasm.

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