Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome

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Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome. / Therkildsen, C; Ladelund, S; Rambech, E; Persson, A; Petersen, A; Nilbert, M.

In: European Journal of Neurology, Vol. 22, No. 4, 04.2015, p. 717-24.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Therkildsen, C, Ladelund, S, Rambech, E, Persson, A, Petersen, A & Nilbert, M 2015, 'Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome', European Journal of Neurology, vol. 22, no. 4, pp. 717-24. https://doi.org/10.1111/ene.12647

APA

Therkildsen, C., Ladelund, S., Rambech, E., Persson, A., Petersen, A., & Nilbert, M. (2015). Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome. European Journal of Neurology, 22(4), 717-24. https://doi.org/10.1111/ene.12647

Vancouver

Therkildsen C, Ladelund S, Rambech E, Persson A, Petersen A, Nilbert M. Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome. European Journal of Neurology. 2015 Apr;22(4):717-24. https://doi.org/10.1111/ene.12647

Author

Therkildsen, C ; Ladelund, S ; Rambech, E ; Persson, A ; Petersen, A ; Nilbert, M. / Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome. In: European Journal of Neurology. 2015 ; Vol. 22, No. 4. pp. 717-24.

Bibtex

@article{65cbfd8de68344c298dc7527343bd31e,
title = "Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome",
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.",
keywords = "Adolescent, Adult, Aged, Astrocytoma, Child, Child, Preschool, Colorectal Neoplasms, Hereditary Nonpolyposis, Comorbidity, Denmark, Female, Glioblastoma, Humans, Male, Middle Aged, Oligodendroglioma, Registries, Young Adult",
author = "C Therkildsen and S Ladelund and E Rambech and A Persson and A Petersen and M Nilbert",
note = "{\textcopyright} 2015 EAN.",
year = "2015",
month = apr,
doi = "10.1111/ene.12647",
language = "English",
volume = "22",
pages = "717--24",
journal = "European Journal of Neurology",
issn = "1351-5101",
publisher = "Wiley-Blackwell",
number = "4",

}

RIS

TY - JOUR

T1 - Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome

AU - Therkildsen, C

AU - Ladelund, S

AU - Rambech, E

AU - Persson, A

AU - Petersen, A

AU - Nilbert, M

N1 - © 2015 EAN.

PY - 2015/4

Y1 - 2015/4

N2 - 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.

AB - 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.

KW - Adolescent

KW - Adult

KW - Aged

KW - Astrocytoma

KW - Child

KW - Child, Preschool

KW - Colorectal Neoplasms, Hereditary Nonpolyposis

KW - Comorbidity

KW - Denmark

KW - Female

KW - Glioblastoma

KW - Humans

KW - Male

KW - Middle Aged

KW - Oligodendroglioma

KW - Registries

KW - Young Adult

U2 - 10.1111/ene.12647

DO - 10.1111/ene.12647

M3 - Journal article

C2 - 25648859

VL - 22

SP - 717

EP - 724

JO - European Journal of Neurology

JF - European Journal of Neurology

SN - 1351-5101

IS - 4

ER -

ID: 161694709