TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma
Open accessAbstract
Telomerase reverse transcriptase (TERT) promoter mutations were recently shown to drive telomerase activity in various cancer types, including medulloblastoma. However, the clinical and biological implications of TERT mutations in medulloblastoma have not been described. Hence, we sought to describe these mutations and their impact in a subgroup-specific manner. We analyzed the TERT promoter by direct sequencing and genotyping in 466 medulloblastomas. The mutational distributions were determined according to subgroup affiliation, demographics, and clinical, prognostic, and molecular features. Integrated genomics approaches were used to identify specific somatic copy number alterations in TERT promoter-mutated and wild-type tumors. Overall, TERT promoter mutations were identified in 21 % of medulloblastomas. Strikingly, the highest frequencies of TERT mutations were observed in SHH (83 %; 55/66) and WNT (31 %; 4/13) medulloblastomas derived from adult patients. Group 3 and Group 4 harbored this alteration in <5 % of cases and showed no association with increased patient age. The prognostic implications of these mutations were highly subgroup-specific. TERT mutations identified a subset with good and poor prognosis in SHH and Group 4 tumors, respectively. Monosomy 6 was mostly restricted to WNT tumors without TERT mutations. Hallmark SHH focal copy number aberrations and chromosome 10q deletion were mutually exclusive with TERT mutations within SHH tumors. TERT promoter mutations are the most common recurrent somatic point mutation in medulloblastoma, and are very highly enriched in adult SHH and WNT tumors. TERT mutations define a subset of SHH medulloblastoma with distinct demographics, cytogenetics, and outcomes.
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TERT promoter mutations are the most common non-coding mutations in cancer and are found in a growing list of cancers.
“These mutations are the most common mutations in non-coding sequences in cancer and are found in a long, and almost certainly growing, list of cancers153–158.”
From Telomeres in cancer: tumour suppression and genome instability (2017) · cites this paper as [156]
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- Authors
- Remke, M., Ramaswamy, V., Peacock, J., Shih, D. J. H., Koelsche, C., Northcott, P. A., Hill, N., Cavalli, F. M. G., Kool, M., Wang, X., Mack, S. C., Barszczyk, M., Morrissy, A. S., Wu, X., Agnihotri, S., Luu, B., Jones, D. T. W., Garzia, L., Dubuc, A. M., Zhukova, N., Vanner, R., Kros, J. M., French, P. J., Van Meir, E. G., Vibhakar, R., Zitterbart, K., Chan, J. A., Bognár, L., Klekner, A., Lach, B., Jung, S., Saad, A. G., Liau, L. M., Albrecht, S., Zollo, M., Cooper, M. K., Thompson, R. C., Delattre, O. O., Bourdeaut, F., Doz, F. F., Garami, M., Hauser, P., Carlotti, C. G., Van Meter, T. E., Massimi, L., Fults, D., Pomeroy, S. L., Kumabe, T., Ra, Y. S., Leonard, J. R., Elbabaa, S. K., Mora, J., Rubin, J. B., Cho, Y.-J., McLendon, R. E., Bigner, D. D., Eberhart, C. G., Fouladi, M., Wechsler-Reya, R. J., Faria, C. C., Croul, S. E., Huang, A., Bouffet, E., Hawkins, C. E., Dirks, P. B., Weiss, W. A., Schüller, U., Pollack, I. F., Rutkowski, S., Meyronet, D., Jouvet, A., Fèvre-Montange, M., Jabado, N., Perek-Polnik, M., Grajkowska, W. A., Kim, S.-K., Rutka, J. T., Malkin, D., Tabori, U., Pfister, S. M., Korshunov, A., von Deimling, A., & Taylor, M. D.
- Affiliations
- Hospital for Sick Children (CA)
- University of Toronto (CA)
- German Cancer Research Center (DE)
- Erasmus MC (NL)
- University of Colorado Denver (US)
- Masaryk University (CZ)
- University of Calgary (CA)
- University of Debrecen (HU)
- Chonnam National University (KR)
- University of Arkansas for Medical Sciences (US)
- University of California, Los Angeles (US)
- McGill University (CA)
- CEINGE Biotecnologie Avanzate Franco Salvatore (Italy) (IT)
- Vanderbilt University Medical Center (US)
- Institut Curie (FR)
- Sorbonne Paris Cité (FR)
- Semmelweis University (HU)
- Universidade de São Paulo (BR)
- University of Utah (US)
- Boston Children's Hospital (US)
- Tohoku University (JP)
- Asan Medical Center (KR)
- St. Louis Children's Hospital (US)
- Saint Louis University (US)
- Hospital Sant Joan de Déu Barcelona (ES)
- Stanford Medicine (US)
- Duke University (US)
- Johns Hopkins University (US)
- Cincinnati Children's Hospital Medical Center (US)
- University of California, San Francisco (US)
- Institut für Neuropathologie (DE)
- University of Pittsburgh (US)
- University Medical Center Hamburg-Eppendorf (DE)
- Lyon 1 Université (FR)
- Seoul National University (KR)
- Corresponding author
- Taylor, Michael D.
- ORCID
- Remke, Marc
- Ramaswamy, Vijay
- Shih, David J. H.
- Koelsche, Christian
- Northcott, Paul A.
- Cavalli, Florence M. G.
- Kool, Marcel
- Wang, Xin
- Mack, Stephen C.
- Barszczyk, Mark
- Morrissy, A. Sorana
- Wu, Xiaochong
- Agnihotri, Sameer
- Jones, David T. W.
- Garzia, Livia
- Dubuc, Adrian M.
- Vanner, Robert
- Kros, Johan M.
- French, Pim J.
- Vibhakar, Rajeev
- Chan, Jennifer A.
- Bognár, László
- Jung, Shin
- Saad, Ali G.
- Liau, Linda M.
- Albrecht, Steffen
- Zollo, Massimo
- Bourdeaut, Franck
- Doz, François F.
- Garami, Miklós
- Carlotti, Carlos G.
- Massimi, Luca
- Fults, Daniel
- Pomeroy, Scott L.
- Ra, Young Shin
- Leonard, Jeffrey R.
- Elbabaa, Samer K.
- Mora, Jaume
- Rubin, Joshua B.
- Cho, Yoon-Jae
- McLendon, Roger E.
- Bigner, Darell D.
- Eberhart, Charles G.
- Fouladi, Maryam
- Croul, Sidney E.
- Huang, Annie
- Hawkins, Cynthia E.
- Dirks, Peter B.
- Weiss, William A.
- Schüller, Ulrich
- Pollack, Ian F.
- Rutkowski, Stefan
- Meyronet, David
- Jabado, Nada
- Kim, Seung-Ki
- Rutka, James T.
- Malkin, David
- Tabori, Uri
- Pfister, Stefan M.
- Korshunov, Andrey
- Taylor, Michael D.
- Venue
- Acta Neuropathologica
- Published
- 2013-10-31
- Volume
- 126
- Issue
- 6
- Pages
- 917-929
- ISSN
- 0001-6322 (ISSN-L)
- 1432-0533
- PMC
- PMC3830749
- OpenAlex
- W2108862374
- Cited by
- 164
- References
- 44
- Citations by year
- 2026: 5 · 2025: 4 · 2024: 5 · 2023: 9 · 2022: 15 · 2021: 12 · 2020: 17 · 2019: 10 · 2018: 21 · 2017: 10 · 2016: 15 · 2015: 17 · 2014: 22 · 2013: 2
- FWCI
- 9.18
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Acta Neuropathologica (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion, other-oa)
- Repository of the Academy's Library (Library of the Hungarian Academy of Sciences) (acceptedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion, other-oa)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- University of Debrecen Electronic Archive (University of Debrecen) (submittedVersion, cc-by)
- eScholarship (California Digital Library) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- University of Debrecen Electronic Archive (University of Debrecen) (submittedVersion, other-oa)
- Semmelweis University Repository (Semmelweis University) (submittedVersion)
- Funders
- Pediatric Brain Tumor Foundation
- University of Toronto
- Magyar Tudományos Akadémia
- Deutsche Krebshilfe
- Hospital for Sick Children
- Hospices Civils de Lyon
- Alberta Innovates
- National Institutes of Health
- Canadian Institutes of Health Research
- National Cancer Institute (R01CA148699, R01CA109467, R01CA163722, R01CA159859, P30CA046934)
- National Institute of Neurological Disorders and Stroke (K08NS059790)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30HD018655)
- Topics
- Health Sciences › Medicine › Genetics › Glioma Diagnosis and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
- Keywords
- TERT promoter mutation, medulloblastoma, sonic hedgehog subgroup, WNT subgroup, Group 3 medulloblastoma, Group 4 medulloblastoma, telomerase activity, somatic copy number alterations, chromosome 10q deletion, prognostic value, adult medulloblastoma, mutational landscape
- MeSH terms
- Adolescent, Adult, Brain Neoplasms, Child, Child, Preschool, DNA Mutational Analysis, Female, Genotype, Humans, Infant, Male, Medulloblastoma, Middle Aged, Mutation, Prognosis, Promoter Regions, Genetic, Telomerase, Gene Expression Profiling
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