International Journal of Hematology

DOI: 10.1007/s12185-019-02642-w Pages: 102-106

Germline missense NF1 mutation in an elderly patient with a blastic plasmacytoid dendritic cell neoplasm

1. Poznan University of Medical Sciences, Department of Hematology and Bone Marrow Transplantation

2. Medical University of Warsaw, Department of Immunology

3. Medical University of Warsaw, Department of Medical Genetics

Correspondence to:
Andrzej Szczepaniak
Tel: +48660703711



Neurofibromatosis type 1 is an autosomal dominantly inherited tumor predisposition syndrome, in which inactivating mutations in the neurofibromatosis type 1 gene (NF1) lead to a prolonged activation of the signaling via the RAS/RAF/MAPK pathway leading to loss of growth control and increased cellular proliferation. We 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, we suggest that the NF1 germline mutation may also increase the risk of BPDCN.

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