Germline missense NF1 mutation in an elderly patient with a blastic plasmacytoid dendritic cell neoplasm
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.
KeywordsBlastic plasmacytoid dendritic cell neoplasm NF1 germline mutation Next-generation sequencing
Blastic plasmacytoid dendritic cell neoplasm
Plasmacytoid dendritic cells
Neurofibromatosis-1 tumor suppressor gene
Eastern Cooperative Oncology Group
Juvenile myelomonocytic leukemia
Acute myeloid leukemia
The authors would like to thank Kurzawa Paweł, MD, from the Pathomorphology Chair, Poznań University Hospital of Lord’s Transfiguration, for the technical assistance in preparing the bone marrow smear photograph. This work was supported by HARMONIA grant from the National Science Center UMO-2014/14/M/NZ5/00441 (T. Stoklosa).
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Conflict of interest
The authors declare that they have no conflict of interest.
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