Germline missense NF1 mutation in an elderly patient with a blastic plasmacytoid dendritic cell neoplasm
| Autor: | Monika Pepek, Michał Gniot, Tomasz Stoklosa, Marcin M Machnicki, Andrzej Szczepaniak, Krzysztof Lewandowski, Rafał Płoski, Maciej Kaźmierczak, Małgorzata Rydzanicz |
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| Rok vydání: | 2018 |
| Předmět: |
MAPK/ERK pathway
Male congenital hereditary and neonatal diseases and abnormalities Mutation Neurofibromatosis 1 Mutation Missense Hematology Dendritic cell Dendritic Cells Biology medicine.disease_cause medicine.disease Germline Pathogenesis Germline mutation Hematologic Neoplasms medicine Cancer research Missense mutation Humans Neurofibromatosis Germ-Line Mutation Aged Signal Transduction |
| Zdroj: | International journal of hematology. 110(1) |
| ISSN: | 1865-3774 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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