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01-07-2019 | Neurofibromatosis Type 1 | Case Report

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

Authors: Andrzej Szczepaniak, Marcin Machnicki, Michał Gniot, Monika Pępek, Małgorzata Rydzanicz, Rafał Płoski, Maciej Kaźmierczak, Tomasz Stokłosa, Krzysztof Lewandowski

Published in: International Journal of Hematology | Issue 1/2019

Abstract

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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Title: Germline missense NF1 mutation in an elderly patient with a blastic plasmacytoid dendritic cell neoplasm
Authors: Andrzej Szczepaniak
Marcin Machnicki
Michał Gniot
Monika Pępek
Małgorzata Rydzanicz
Rafał Płoski
Maciej Kaźmierczak
Tomasz Stokłosa
Krzysztof Lewandowski
Publication date: 01-07-2019
Publisher: Springer Japan
Keywords: Neurofibromatosis Type 1
Blastic Plasmacytoid Dendritic Cell Neoplasm
Published in: International Journal of Hematology / Issue 1/2019
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI: https://doi.org/10.1007/s12185-019-02642-w

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