Recent developments in brain tumor predisposing syndromes

Johansson, Gunnar; Andersson, Ulrika; Melin, Beatrice

doi:10.3109/0284186x.2015.1107190

Cited by 38 publications

(29 citation statements)

References 119 publications

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“…Of the 83 published cases of angiocentric glioma, none were associated with a genetic syndrome. In general, gliomas are rarely associated with genetic syndromes; neurofibromatosis 1 and 2, tuberous sclerosis, Turcot syndrome, and Li Fraumeni syndrome are the primary genetic syndromes in which there is a clear increased glioma risk . The co‐occurrence of angiocentric glioma and KdVS in case 31 is unlikely to be a coincidence given the individual rarities of the two diseases, but more study is necessary to determine if there is a significant increased risk of this or other tumor types in KdVS.…”

Section: Discussionmentioning

confidence: 99%

The epileptology of Koolen‐de Vries syndrome: Electro‐clinico‐radiologic findings in 31 patients

et al. 2017

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The typical epilepsy phenotype of KdVS involves childhood-onset focal seizures that are prolonged and have prominent autonomic features. Multifocal epileptiform discharges are the typical EEG pattern. Structural brain abnormalities may be universal, including signs of abnormal neuroblast migration and abnormal axonal guidance. Epilepsy surgery should be undertaken with care given the widespread neuroanatomic abnormalities; however, tumors are a rare, yet important, occurrence.

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Section: Discussionmentioning

confidence: 99%

The epileptology of Koolen‐de Vries syndrome: Electro‐clinico‐radiologic findings in 31 patients

et al. 2017

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“…However, familial aggregation of gliomas does exist, accounting for around 5% of patients according to Malmer et al [43]. Also, glioma susceptibility is increased in patients suffering from certain inherited cancer syndromes, such as neurofibromatosis type 1 and 2, Li-Fraumeni syndrome, and brain tumor polyposis syndromes 1 (Turcot) and 2 (Gardner) (reviewed in [36]), suggesting that genetic alterations play a role in glioma risk. Similarly, familial prostate cancer has been described and tumor syndromes exist that are associated with prostate cancer susceptibility, e.g.…”

Section: Introductionmentioning

confidence: 99%

“…the mismatch repair genes MSH2, MSH6, MLH1, and PMS2) or chromosomal regions (e.g. the 8q24 locus) confer increased risk for different tumor entities including gliomas [35,36] and prostate cancer [4,41]. Therefore in some families, gliomas and prostate cancer may both be part of a tumor spectrum associated with a common genetic basis.…”

Section: Introductionmentioning

confidence: 99%

Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis

et al. 2017

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In search of novel germline alterations predisposing to tumors, in particular to gliomas, we studied a family with two brothers affected by anaplastic gliomas, and their father and paternal great-uncle diagnosed with prostate carcinoma. In this family, whole-exome sequencing yielded rare, simultaneously heterozygous variants in the Aicardi-Goutières syndrome (AGS) genes ADAR and RNASEH2B co-segregating with the tumor phenotype. AGS is a genetically induced inflammatory disease particularly of the brain, which has not been associated with a consistently increased cancer risk to date. By targeted sequencing, we identified novel ADAR and RNASEH2B variants, and a 3- to 17-fold frequency increase of the AGS mutations ADAR,c.577C>G;p.(P193A) and RNASEH2B,c.529G>A;p.(A177T) in the germline of familial glioma patients as well as in test and validation cohorts of glioblastomas and prostate carcinomas versus ethnicity-matched controls, whereby rare RNASEH2B variants were significantly more frequent in familial glioma patients. Tumors with ADAR or RNASEH2B variants recapitulated features of AGS, such as calcification and increased type I interferon expression. Patients carrying ADAR or RNASEH2B variants showed upregulation of interferon-stimulated gene (ISG) transcripts in peripheral blood as seen in AGS. An increased ISG expression was also induced by ADAR and RNASEH2B variants in tumor cells and was blocked by the JAK inhibitor Ruxolitinib. Our data implicate rare variants in the AGS genes ADAR and RNASEH2B and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis, consistent with a genetic basis underlying inflammation-driven malignant transformation in glioma and prostate carcinoma development.

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“…При экстраренальной ло-кализации новообразования иногда возникает необходимость проведения дифференциального диаг-ноза RTPS1 и других онкологических синдромов. В частности, шванномы и менингиомы могут быть ча-стью клинической картины нейрофиброматоза 2-го типа, вызываемого мутациями в гене NF2 [11,12]. Му-тации в гене SMARCA4 могут приводить к развитию RTPS2; менингиомы бывают проявлением синдрома Горлина (обусловлен мутациями в гене PTCH) [5,13].…”

Section: Introductionunclassified

Germline nonsense-mutations of the SMARCB1 gene in Russian patients with rhabdoid renal tumors

et al. 2017

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Recent developments in brain tumor predisposing syndromes

Cited by 38 publications

References 119 publications

The epileptology of Koolen‐de Vries syndrome: Electro‐clinico‐radiologic findings in 31 patients

The epileptology of Koolen‐de Vries syndrome: Electro‐clinico‐radiologic findings in 31 patients

Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis

Germline nonsense-mutations of the SMARCB1 gene in Russian patients with rhabdoid renal tumors

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