{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T03:05:15Z","timestamp":1789700715719,"version":"4.0.1"},"reference-count":48,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2022,12,20]],"date-time":"2022-12-20T00:00:00Z","timestamp":1671494400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U2C-CA233285"],"award-info":[{"award-number":["U2C-CA233285"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["5T32CA009615-30"],"award-info":[{"award-number":["5T32CA009615-30"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["2K12HD043245-16"],"award-info":[{"award-number":["2K12HD043245-16"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R03-CA23036"],"award-info":[{"award-number":["R03-CA23036"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["HHSN261200800001E"],"award-info":[{"award-number":["HHSN261200800001E"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Alex\u2019s Lemonade Stand Foundation Young Investigator Award"},{"DOI":"10.13039\/100007445","name":"Matthew Larson Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007445","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Marlene Shlomchik Fellowship for Cancer Research"},{"name":"Division of Neurosurgery at the Children\u2019s Hospital of Philadelphia"},{"name":"Intramural Research Program of the Division of Cancer Epidemiology and Genetics of the National Cancer Institute"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>To achieve replicative immortality, most cancers develop a telomere maintenance mechanism, such as reactivation of telomerase or alternative lengthening of telomeres (ALT). There are limited data on the prevalence and clinical significance of ALT in pediatric brain tumors, and ALT-directed therapy is not available.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We performed C-circle analysis (CCA) on 579 pediatric brain tumors that had corresponding tumor\/normal whole genome sequencing through the Open Pediatric Brain Tumor Atlas (OpenPBTA). We detected ALT in 6.9% (n\u00a0=\u00a040\/579) of these tumors and completed additional validation by ultrabright telomeric foci in situ on a subset of these tumors. We used CCA to validate TelomereHunter for computational prediction of ALT status and focus subsequent analyses on pediatric high-grade gliomas (pHGGs) Finally, we examined whether ALT is associated with recurrent somatic or germline alterations.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>ALT is common in pHGGs (n\u00a0=\u00a024\/63, 38.1%), but occurs infrequently in other pediatric brain tumors (&amp;lt;3%). Somatic ATRX mutations occur in 50% of ALT+ pHGGs and in 30% of ALT\u2212 pHGGs. Rare pathogenic germline variants in mismatch repair (MMR) genes are significantly associated with an increased occurrence of ALT.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>We demonstrate that ATRX is mutated in only a subset of ALT+ pHGGs, suggesting other mechanisms of ATRX loss of function or alterations in other genes may be associated with the development of ALT in these patients. We show that germline variants in MMR are associated with the development of ALT in patients with pHGG.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/neuonc\/noac278","type":"journal-article","created":{"date-parts":[[2022,12,17]],"date-time":"2022-12-17T02:32:33Z","timestamp":1671244353000},"page":"1331-1342","source":"Crossref","is-referenced-by-count":17,"title":["Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR) variants"],"prefix":"10.1093","volume":"25","author":[{"given":"Jennifer L","family":"Stundon","sequence":"first","affiliation":[{"name":"Division of Oncology, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Department of Pediatrics, University of Pennsylvania , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heba","family":"Ijaz","sequence":"additional","affiliation":[{"name":"Division of Oncology, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Sidney Kimmel Medical College, Thomas Jefferson University , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krutika S","family":"Gaonkar","sequence":"additional","affiliation":[{"name":"Center for Data-Driven Discovery in Biomedicine, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Department of Bioinformatics and Health Informatics, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Division of Neurosurgery, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca S","family":"Kaufman","sequence":"additional","affiliation":[{"name":"Division of Oncology, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Department of Bioinformatics and Health Informatics, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Run","family":"Jin","sequence":"additional","affiliation":[{"name":"Center for Data-Driven Discovery in Biomedicine, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Division of Neurosurgery, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasios","family":"Karras","sequence":"additional","affiliation":[{"name":"Division of Oncology, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zalman","family":"Vaksman","sequence":"additional","affiliation":[{"name":"Division of Oncology, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Department of Bioinformatics and Health Informatics, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jung","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute , Rockville, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan J","family":"Corbett","sequence":"additional","affiliation":[{"name":"Center for Data-Driven Discovery in Biomedicine, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Division of Neurosurgery, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew R","family":"Lueder","sequence":"additional","affiliation":[{"name":"Center for Data-Driven Discovery in Biomedicine, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Division of Neurosurgery, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Department of Pathology and Laboratory Medicine, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel P","family":"Miller","sequence":"additional","affiliation":[{"name":"Center for Data-Driven Discovery in Biomedicine, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Division of Neurosurgery, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiran","family":"Guo","sequence":"additional","affiliation":[{"name":"Center for Data-Driven Discovery in Biomedicine, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Division of Neurosurgery, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariarita","family":"Santi","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilyn","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5092-1284","authenticated-orcid":false,"given":"Gonzalo","family":"Lopez","sequence":"additional","affiliation":[{"name":"Division of Oncology, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillip B","family":"Storm","sequence":"additional","affiliation":[{"name":"Center for Data-Driven Discovery in Biomedicine, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Division of Neurosurgery, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam C","family":"Resnick","sequence":"additional","affiliation":[{"name":"Center for Data-Driven Discovery in Biomedicine, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Division of Neurosurgery, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela J","family":"Waanders","sequence":"additional","affiliation":[{"name":"Division of Hematology, Oncology, NeuroOncology, and Stem Cell Transplant, Ann & Robert H Lurie Children\u2019s Hospital of Chicago , Illinois, USA"},{"name":"Department of Pediatrics, Northwestern University Feinberg School of Medicine , Chicago, Illinois, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne P","family":"MacFarland","sequence":"additional","affiliation":[{"name":"Division of Oncology, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Department of Pediatrics, University of Pennsylvania , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas R","family":"Stewart","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute , Rockville, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon J","family":"Diskin","sequence":"additional","affiliation":[{"name":"Division of Oncology, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Department of Pediatrics, University of Pennsylvania , Philadelphia, Pennsylvania, USA"},{"name":"Department of Bioinformatics and Health Informatics, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Abramson Family Cancer Research Institute, Perelman School of Medicine at the University of Pennsylvania , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2171-3627","authenticated-orcid":false,"given":"Jo Lynne","family":"Rokita","sequence":"additional","affiliation":[{"name":"Center for Data-Driven Discovery in Biomedicine, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Department of Bioinformatics and Health Informatics, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Division of Neurosurgery, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina A","family":"Cole","sequence":"additional","affiliation":[{"name":"Division of Oncology, Children\u2019s Hospital of Philadelphia , Philadelphia, Pennsylvania, USA"},{"name":"Department of Pediatrics, University of Pennsylvania , Philadelphia, Pennsylvania, USA"},{"name":"Abramson Family Cancer Research Institute, Perelman School of Medicine at the University of Pennsylvania , Philadelphia, Pennsylvania, 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