Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome. (19th January 2015)

• Record Type: Journal Article
• Authors: Therkildsen, C.; Ladelund, S.; Rambech, E.; Persson, A.; Petersen, A.; Nilbert, M.
• Is Part Of: European journal of neurology. Volume 22:Number 4(2015:Apr.)
• Page Start: 717
• Page End: 724
• Publication Date: 2015-01-19
• Subjects: Neurology -- Periodicals; Nervous system -- Diseases -- Periodicals; 616.8
• DOI: 10.1111/ene.12647
• Languages: English
• ISSNs: 1351-5101

Abstract

<abstract abstract-type="main" id="ene12647-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ene12647-sec-0001" sec-type="section"> <title>Background and purpose</title> <p>Brain tumors represent a rare and relatively uncharacterized tumor type in Lynch syndrome.</p> </sec> <sec id="ene12647-sec-0002" sec-type="section"> <title>Methods</title> <p>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.</p> </sec> <sec id="ene12647-sec-0003" sec-type="section"> <title>Results</title> <p>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 <italic>MSH2</italic> gene mutation carriers compared to patients with mutations in <italic>MLH1</italic> or <italic>MSH6</italic>. 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 <italic>IDH1</italic> R132H mutation.</p> </sec> <sec id="ene12647-sec-0004" sec-type="section"> <title>Conclusion</title> <p>In Lynch syndrome brain tumors occurred in 14% of the families with significantly higher risks for individuals with <italic>MSH2</italic> gene mutations and development of childhood brain tumors in individuals with constitutional MMR defects.</p> </sec> </abstract>