Germline missense NF1 mutation in an elderly patient with a blastic plasmacytoid dendritic cell neoplasm.
Int J Hematol
; 110(1): 102-106, 2019 Jul.
Article
em En
| MEDLINE
| ID: mdl-30977107
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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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Células Dendríticas
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Neurofibromatose 1
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Mutação em Linhagem Germinativa
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Neoplasias Hematológicas
Limite:
Aged
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Humans
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Male
Idioma:
En
Revista:
Int J Hematol
Ano de publicação:
2019
Tipo de documento:
Article