Germline missense NF1 mutation in an elderly patient with a blastic plasmacytoid dendritic cell neoplasm. View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-04-11

AUTHORS

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

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. More... »

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s12185-019-02642-w

DOI

http://dx.doi.org/10.1007/s12185-019-02642-w

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1113378702

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30977107


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