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.
I: European Journal of Neurology, Bind 22, Nr. 4, 04.2015, s. 717-24.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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