Germline Genetic Landscape of Pediatric Central Nervous System Tumors

Overview

Journal Neuro Oncol

Publisher Oxford University Press

Specialties Neurology
Oncology

Date 2019 Jun 28

PMID 31247102

Citations 18

Authors

Ivo S Muskens

Chenan Zhang

Adam J de Smith

Jaclyn A Biegel

Kyle M Walsh

Joseph L Wiemels

Affiliations

Soon will be listed here.

Abstract

Central nervous system (CNS) tumors are the second most common type of cancer among children. Depending on histopathology, anatomic location, and genomic factors, specific subgroups of brain tumors have some of the highest cancer-related mortality rates or result in considerable lifelong morbidity. Pediatric CNS tumors often occur in patients with genetic predisposition, at times revealing underlying cancer predisposition syndromes. Advances in next-generation sequencing (NGS) have resulted in the identification of an increasing number of cancer predisposition genes. In this review, the literature on genetic predisposition to pediatric CNS tumors is evaluated with a discussion of potential future targets for NGS and clinical implications. Furthermore, we explore potential strategies for enhancing the understanding of genetic predisposition of pediatric CNS tumors, including evaluation of non-European populations, pan-genomic approaches, and large collaborative studies.

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References

Ritz B, Chatterjee N, Garcia-Closas M, Gauderman W, Pierce B, Kraft P . Lessons Learned From Past Gene-Environment Interaction Successes. Am J Epidemiol. 2017; 186(7):778-786. PMC: 5860326. DOI: 10.1093/aje/kwx230. View

Helfferich J, Nijmeijer R, Brouwer O, Boon M, Fock A, Hoving E . Neurofibromatosis type 1 associated low grade gliomas: A comparison with sporadic low grade gliomas. Crit Rev Oncol Hematol. 2016; 104:30-41. DOI: 10.1016/j.critrevonc.2016.05.008. View

Abadin S, Zoellner N, Schaeffer M, Porcelli B, Gutmann D, Johnson K . Racial/Ethnic Differences in Pediatric Brain Tumor Diagnoses in Patients with Neurofibromatosis Type 1. J Pediatr. 2015; 167(3):613-20.e1-2. PMC: 4784699. DOI: 10.1016/j.jpeds.2015.04.076. View

Fryssira H, Leventopoulos G, Psoni S, Kitsiou-Tzeli S, Stavrianeas N, Kanavakis E . Tumor development in three patients with Noonan syndrome. Eur J Pediatr. 2007; 167(9):1025-31. DOI: 10.1007/s00431-007-0636-3. View

Kleinerman R, Tucker M, Abramson D, Seddon J, Tarone R, Fraumeni Jr J . Risk of soft tissue sarcomas by individual subtype in survivors of hereditary retinoblastoma. J Natl Cancer Inst. 2007; 99(1):24-31. DOI: 10.1093/jnci/djk002. View

de Kock L, Sabbaghian N, Druker H, Weber E, Hamel N, Miller S . Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathol. 2014; 128(4):583-95. PMC: 4381868. DOI: 10.1007/s00401-014-1318-7. View

Claus E, Cornish A, Broderick P, Schildkraut J, Dobbins S, Holroyd A . Genome-wide association analysis identifies a meningioma risk locus at 11p15.5. Neuro Oncol. 2018; 20(11):1485-1493. PMC: 6176799. DOI: 10.1093/neuonc/noy077. View

Wang X, Zeng X, Zhang B, Dou Y, Wu J, Jiang C . Spinal meningioma in childhood: clinical features and treatment. Childs Nerv Syst. 2011; 28(1):129-36. DOI: 10.1007/s00381-011-1570-2. View

Wu G, Diaz A, Paugh B, Rankin S, Ju B, Li Y . The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma. Nat Genet. 2014; 46(5):444-450. PMC: 4056452. DOI: 10.1038/ng.2938. View

10.

Bacchelli C, Williams H . Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases. Expert Rev Mol Diagn. 2016; 16(10):1073-1082. DOI: 10.1080/14737159.2016.1222906. View

11.

Piekutowska-Abramczuk D, Ciara E, Popowska E, Grajkowska W, Dembowska-Baginska B, Kowalewska E . The frequency of NBN molecular variants in pediatric astrocytic tumors. J Neurooncol. 2009; 96(2):161-8. DOI: 10.1007/s11060-009-9958-5. View

12.

Abramson D, Melson M, Dunkel I, FRANK C . Third (fourth and fifth) nonocular tumors in survivors of retinoblastoma. Ophthalmology. 2001; 108(10):1868-76. DOI: 10.1016/s0161-6420(01)00713-8. View

13.

Li F, Fraumeni Jr J, Mulvihill J, Blattner W, Dreyfus M, Tucker M . A cancer family syndrome in twenty-four kindreds. Cancer Res. 1988; 48(18):5358-62. View

14.

Shlien A, Campbell B, De Borja R, Alexandrov L, Merico D, Wedge D . Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers. Nat Genet. 2015; 47(3):257-62. DOI: 10.1038/ng.3202. View

15.

Achatz M, Zambetti G . The Inherited p53 Mutation in the Brazilian Population. Cold Spring Harb Perspect Med. 2016; 6(12). PMC: 5131754. DOI: 10.1101/cshperspect.a026195. View

16.

Northcott P, Jones D, Kool M, Robinson G, Gilbertson R, Cho Y . Medulloblastomics: the end of the beginning. Nat Rev Cancer. 2012; 12(12):818-34. PMC: 3889646. DOI: 10.1038/nrc3410. View

17.

Bouffet E, Larouche V, Campbell B, Merico D, De Borja R, Aronson M . Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency. J Clin Oncol. 2016; 34(19):2206-11. DOI: 10.1200/JCO.2016.66.6552. View

18.

Dimaras H, Corson T, Cobrinik D, White A, Zhao J, Munier F . Retinoblastoma. Nat Rev Dis Primers. 2016; 1:15021. PMC: 5744255. DOI: 10.1038/nrdp.2015.21. View

19.

Kline C, Joseph N, Grenert J, Van Ziffle J, Yeh I, Bastian B . Inactivating MUTYH germline mutations in pediatric patients with high-grade midline gliomas. Neuro Oncol. 2016; 18(5):752-3. PMC: 4827050. DOI: 10.1093/neuonc/now013. View

20.

Reilly K . Brain tumor susceptibility: the role of genetic factors and uses of mouse models to unravel risk. Brain Pathol. 2008; 19(1):121-31. PMC: 2761018. DOI: 10.1111/j.1750-3639.2008.00236.x. View