{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:26:37Z","timestamp":1791973597556,"version":"4.4.0"},"reference-count":40,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2010,12,10]]},"published-print":{"date-parts":[[2011,7]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Chordoma, an age-dependent rare cancer, arises from notochordal remnants. Fewer than 5% of chordomas occur in children. Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome characterised by abnormal tissue growths in multiple organ systems. Reports of chordoma in children with TSC suggest that <jats:italic>TSC1<\/jats:italic> and <jats:italic>TSC2<\/jats:italic> mutations may contribute to chordoma aetiology.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>To determine whether the 10 TSC-associated childhood chordomas reported in the literature are representative of chordoma in the general paediatric population, the authors compared age at diagnosis, primary site and outcome in them with results from a systematic assessment of 65 paediatric chordoma cases reported to the US population-based cancer registries contributing to the SEER Program of the National Cancer Institute.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>TSC-associated paediatric chordomas differed from chordomas in the general paediatric population: median age at diagnosis (6.2\u2005months, TSC, vs 12.5\u2005years, SEER); anatomical site (40% sacral, TSC, vs 9.4% sacral, SEER); and site-specific age at diagnosis (all four sacral chordomas diagnosed during the fetal or neonatal period, TSC, vs all six sacral chordomas diagnosed at &gt;15\u2005years, SEER). Finally, three of four patients with TSC-associated sacral chordoma were alive and tumour-free at 2.2, 8 and 19\u2005years after diagnosis versus a median survival of 36\u2005months among paediatric patients with sacral chordoma in SEER.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>These results strengthen the association between paediatric chordoma and TSC. Future clinical and molecular studies documenting the magnitude and clinical spectrum of the joint occurrence of these two diseases should provide the basis for delineating the biological relationship between them.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2010.085092","type":"journal-article","created":{"date-parts":[[2011,1,25]],"date-time":"2011-01-25T20:35:35Z","timestamp":1295987735000},"page":"444-449","source":"Crossref","is-referenced-by-count":52,"title":["Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population"],"prefix":"10.1136","volume":"48","author":[{"given":"Mary L","family":"McMaster","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alisa M","family":"Goldstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dilys M","family":"Parry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2011,1,25]]},"reference":[{"key":"2025100521121711000_48.7.444.1","doi-asserted-by":"publisher","DOI":"10.1097\/CCO.0b013e3281214448"},{"key":"2025100521121711000_48.7.444.2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1008947301735"},{"key":"2025100521121711000_48.7.444.3","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980123)75:3<335::AID-AJMG23>3.0.CO;2-P"},{"key":"2025100521121711000_48.7.444.4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0215(19990331)81:1<24::AID-IJC5>3.0.CO;2-O"},{"key":"2025100521121711000_48.7.444.5","doi-asserted-by":"publisher","DOI":"10.1086\/321982"},{"key":"2025100521121711000_48.7.444.6","doi-asserted-by":"publisher","DOI":"10.1038\/ng.454"},{"key":"2025100521121711000_48.7.444.7","doi-asserted-by":"publisher","DOI":"10.1007\/s004310000645"},{"key":"2025100521121711000_48.7.444.8","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20052"},{"key":"2025100521121711000_48.7.444.9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra055323"},{"key":"2025100521121711000_48.7.444.10","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61279-9"},{"key":"2025100521121711000_48.7.444.11","doi-asserted-by":"publisher","DOI":"10.1017\/S0012162206001058"},{"key":"2025100521121711000_48.7.444.12","doi-asserted-by":"publisher","DOI":"10.1086\/302381"},{"key":"2025100521121711000_48.7.444.13","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2672"},{"key":"2025100521121711000_48.7.444.14","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2005.05.019"},{"key":"2025100521121711000_48.7.444.15","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80362-X"},{"key":"2025100521121711000_48.7.444.16","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1038\/bjc.1994.431","article-title":"Neurofibromatosis and childhood leukaemia\/lymphoma: a population-based UKCCSG study","volume":"70","author":"Stiller","year":"1994","journal-title":"Br J Cancer"},{"key":"2025100521121711000_48.7.444.17","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.20644"},{"key":"2025100521121711000_48.7.444.18","unstructured":"Surveillance, Epidemiology, and End Results (SEER) Program SEER*Stat Database: Incidence-SEER 9 Regs Research Data, Nov 2009 Sub (1973-2007) <Katrina\/Rita Population Adjustment>- Linked to county attributes \u00e2\u0080\u0093 Total U.S., 196902997 Counties, National Cancer Institute, DCCPS, Surveillance Research Program, Cancer Statistics Branch, released April 2010, based on the November 2009 submission. 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