Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome.
Eur J Neurol
; 22(4): 717-24, 2015 Apr.
Article
em En
| MEDLINE
| ID: mdl-25648859
ABSTRACT
BACKGROUND AND PURPOSE:
Brain tumors represent a rare and relatively uncharacterized tumor type in Lynch syndrome.METHODS:
The national Danish Hereditary Nonpolyposis Colorectal Cancer Register was utilized to estimate the cumulative life-time risk for brain tumors in Lynch syndrome, and the mismatch repair (MMR) status in all tumors available was evaluated.RESULTS:
Primary brain tumors developed in 41/288 families at a median age of 41.5 (range 2-73) years. Biallelic MMR gene mutations were linked to brain tumor development in childhood. The risk of brain tumors was significantly higher (2.5%) in MSH2 gene mutation carriers compared to patients with mutations in MLH1 or MSH6. Glioblastomas predominated (56%), followed by astrocytomas (22%) and oligodendrogliomas (9%). MMR status was assessed in 10 tumors, eight of which showed MMR defects. None of these tumors showed immunohistochemical staining suggestive of the IDH1 R132H mutation.CONCLUSION:
In Lynch syndrome brain tumors occurred in 14% of the families with significantly higher risks for individuals with MSH2 gene mutations and development of childhood brain tumors in individuals with constitutional MMR defects.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Oligodendroglioma
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Astrocitoma
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Neoplasias Colorretais Hereditárias sem Polipose
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Sistema de Registros
Limite:
Adolescent
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Adult
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Aged
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Child
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Child, preschool
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Female
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Humans
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Male
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Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
Eur J Neurol
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Suécia