{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:40:53Z","timestamp":1792806053713,"version":"4.5.0"},"reference-count":25,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:sec>\n                    <jats:title>OBJECTIVE<\/jats:title>\n                    <jats:p>\n                      To gain insight into the role of germline genetics in the development of chordoma, the authors evaluated data from 2 sets of patients with familial chordoma, those with and without a germline duplication of the\n                      <jats:italic>T<\/jats:italic>\n                      gene (\n                      <jats:italic>T-dup+<\/jats:italic>\n                      vs\n                      <jats:italic>T-dup<\/jats:italic>\n                      \u2212), which was previously identified as a susceptibility mechanism in some families. The authors then compared the patients with familial tumors to patients with sporadic chordoma in the US general population reported to the National Cancer Institute\u2019s Surveillance, Epidemiology, and End Results (SEER) program through 2015.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>METHODS<\/jats:title>\n                    <jats:p>Evaluation of family members included review of personal and family medical history, physical and neurological examination, and pre- and postcontrast MRI of the skull base and spine. Sixteen patients from 6 white families with chordoma had a chordoma diagnosis at family referral. Screening MR images of 35 relatives revealed clival lesions in 6, 4 of which were excised and confirmed to be chordoma. Thus, data were available for 20 patients with histologically confirmed familial chordoma. There were 1759 patients with histologically confirmed chordoma in SEER whose race was known.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS<\/jats:title>\n                    <jats:p>\n                      The median age at chordoma diagnosis differed across the groups: it was lowest in\n                      <jats:italic>T-dup+<\/jats:italic>\n                      familial patients (26.8 years, range 5.3\u201368.4 years); intermediate in\n                      <jats:italic>T-dup<\/jats:italic>\n                      \u2212 patients (46.2 years, range 11.8\u201360.1 years); and highest in SEER patients (57 years, range 0\u201398 years). There was a marked preponderance of skull base tumors in patients with familial chordoma (93% in\n                      <jats:italic>T-dup+<\/jats:italic>\n                      and 83% in\n                      <jats:italic>T-dup<\/jats:italic>\n                      \u2212) versus 38% in the SEER program (37% in white, 53% in black, and 48.5% in Asian\/Pacific Islander\/American Indian\/Alaska Native patients). Furthermore, 29% of white and 16%\u201317% of nonwhite SEER patients had mobile-spine chordoma, versus no patients in the familial group. Several\n                      <jats:italic>T-dup+<\/jats:italic>\n                      familial chordoma patients had putative second\/multiple primary chordomas.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSIONS<\/jats:title>\n                    <jats:p>The occurrence of young age at diagnosis, skull base presentation, or multiple primary chordomas should encourage careful review of family history for patients diagnosed with chordoma as well as screening of at-risk family members by MRI for early detection of chordoma. Furthermore, given genetic predisposition in some patients with familial chordoma, identification of a specific mutation in a family will permit surveillance to be limited to mutation carriers\u2014and consideration should be given for imaging the entire neuraxis in any chordoma patient presenting at an early age or with a blood relative with chordoma. Finally, future studies should explore racial differences in age at diagnosis and presenting site in chordoma.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3171\/2020.4.jns193505","type":"journal-article","created":{"date-parts":[[2020,6,19]],"date-time":"2020-06-19T03:39:58Z","timestamp":1592537998000},"page":"1399-1408","source":"Crossref","is-referenced-by-count":14,"title":["Clinical findings in families with chordoma with and without T gene duplications and in patients with sporadic chordoma reported to the Surveillance, Epidemiology, and End Results program"],"prefix":"10.3171","volume":"134","author":[{"given":"Dilys M.","family":"Parry","sequence":"first","affiliation":[{"name":"Division of Cancer Epidemiology & Genetics, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary L.","family":"McMaster","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology & Genetics, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda;"},{"name":"Commissioned Corps of the United States Public Health Service, Bethesda, Maryland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norbert J.","family":"Liebsch","sequence":"additional","affiliation":[{"name":"Department of Radiation Oncology, Massachusetts General Hospital, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas J.","family":"Patronas","sequence":"additional","affiliation":[{"name":"Radiology and Imaging Sciences, NIH Clinical Center, Bethesda;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martha M.","family":"Quezado","sequence":"additional","affiliation":[{"name":"Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, NIH, Bethesda; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Zametkin","sequence":"additional","affiliation":[{"name":"Westat, Inc., Rockville, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohong R.","family":"Yang","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology & Genetics, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alisa M.","family":"Goldstein","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology & Genetics, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1754","reference":[{"issue":"1","key":"b1","series-title":"Cancer Causes Control","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1023\/A:1008947301735","article-title":"Chordoma: incidence and survival patterns in the United States, 1973-1995","volume":"12","author":"McMaster\n \nML","year":"2001","unstructured":"McMaster\n \nML\n\n, \n\nGoldstein\n \nAM\n\n, \n\nBromley\n \nCM\n\n, \n\n\n \nChordoma: incidence and survival patterns in the United States, 1973-1995\n. \nCancer Causes Control\n. \n2001\n;\n12\n(\n1\n):\n1\n\u2013\n11\n.\n1122792010.1023\/A:1008947301735"},{"issue":"11","key":"b2","series-title":"Cancer","doi-asserted-by":"publisher","first-page":"2029","DOI":"10.1002\/cncr.28032","article-title":"Incidence and relative survival of chordomas: the standardized mortality ratio and the impact of chordomas on a population","volume":"119","author":"Smoll\n \nNR","year":"2013","unstructured":"Smoll\n \nNR\n\n, \n\nGautschi\n \nOP\n\n, \n\nRadovanovic\n \nI\n\n, \n\n\n \nIncidence and relative survival of chordomas: the standardized mortality ratio and the impact of chordomas on a population\n. \nCancer\n. \n2013\n;\n119\n(\n11\n):\n2029\n\u2013\n2037\n.\n10.1002\/cncr.2803223504991"},{"issue":"5","key":"b3","series-title":"J Bone Joint Surg Br","doi-asserted-by":"publisher","first-page":"634","DOI":"10.1302\/0301-620X.88B5.17299","article-title":"Familial chordoma. 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