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.
| Original language | English |
|---|---|
| Journal | European Journal of Neurology |
| Volume | 22 |
| Issue number | 4 |
| Pages (from-to) | 717-24 |
| Number of pages | 8 |
| ISSN | 1351-5101 |
| DOIs | |
| Publication status | Published - 1 Apr 2015 |
Keywords
- Adolescent
- Adult
- Aged
- Astrocytoma
- Child
- Child, Preschool
- Colorectal Neoplasms, Hereditary Nonpolyposis
- Comorbidity
- Denmark
- Female
- Glioblastoma
- Humans
- Male
- Middle Aged
- Oligodendroglioma
- Registries
- Young Adult
