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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome

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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.

OriginalsprogEngelsk
TidsskriftEuropean journal of neurology : the official journal of the European Federation of Neurological Societies
Vol/bind22
Udgave nummer4
Sider (fra-til)717-24
Antal sider8
ISSN1351-5101
DOI
StatusUdgivet - apr. 2015

ID: 45546595