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Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome.
Therkildsen, C; Ladelund, S; Rambech, E; Persson, A; Petersen, A; Nilbert, M.
Afiliação
  • Therkildsen C; Clinical Research Centre, Copenhagen University Hospital, Hvidovre, Denmark; Division of Oncology and Pathology, Institute of Clinical Sciences, Lund, Sweden.
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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Oligodendroglioma / Astrocitoma / Neoplasias Colorretais Hereditárias sem Polipose / Sistema de Registros Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / 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

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Oligodendroglioma / Astrocitoma / Neoplasias Colorretais Hereditárias sem Polipose / Sistema de Registros Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / 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