Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome.

Authors :: Therkildsen C
Ladelund S
Rambech E
Persson A
Petersen A
Nilbert M
Source :: European journal of neurology [Eur J Neurol] 2015 Apr; Vol. 22 (4), pp. 717-24. Date of Electronic Publication: 2015 Jan 19.
Publication Year :: 2015
Abstract: Background and Purpose: Brain tumors represent a rare and relatively uncharacterized tumor type in Lynch syndrome.<br />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.<br />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.<br />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.<br /> (© 2015 EAN.)