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Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome
C Therkildsen1, S Ladelund, E Rambech
1Clinical Research Centre, Copenhagen University Hospital, Hvidovre, Denmark; Division of Oncology and Pathology, Institute of Clinical Sciences, Lund, Sweden.
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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