{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:23:29Z","timestamp":1745468609315,"version":"3.40.4"},"reference-count":28,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2025,1,22]],"date-time":"2025-01-22T00:00:00Z","timestamp":1737504000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,1,22]],"date-time":"2025-01-22T00:00:00Z","timestamp":1737504000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Oncol"],"abstract":"<jats:p>Introduction: Sympathetic paragangliomas (PGLs) are rare neuroendocrine tumours originating from chromaffin cells, primarily in the thorax, abdomen, and pelvis. Paediatric PGLs are particularly uncommon, but they represent a notable cause of secondary hypertension in children. These tumours frequently have a genetic basis, with up to 40% of patients carrying germline mutations, including variants of unknown significance (VUS), which present diagnostic and management challenges. Case Presentation: In this case report, we describe a 10-year-old male who presented with seizures and hypertensive crisis, later diagnosed with a functional PGL. Biochemical tests confirmed elevated catecholamines, and imaging revealed a 3 cm para-aortic tumour. Genetic testing identified a heterozygous mutation in the FH gene classified as VUS. Surgical resection of the tumour was curative, with no recurrence after 2 years of follow-up. Conclusion: This case underscores the complexities of interpreting VUS in paediatric PGL and highlights the need for long-term follow-up and further research into the clinical significance of these genetic findings. <\/jats:p>","DOI":"10.1159\/000543615","type":"journal-article","created":{"date-parts":[[2025,1,22]],"date-time":"2025-01-22T17:00:38Z","timestamp":1737565238000},"page":"255-261","source":"Crossref","is-referenced-by-count":0,"title":["Paediatric Paraganglioma with Variant of Unknown Significance on Genetic Testing"],"prefix":"10.1159","volume":"18","author":[{"given":"Jia Ling","family":"Ong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diluka","family":"Pinto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reshma","family":"Rajeev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3318-0357","authenticated-orcid":false,"given":"Rajeev","family":"Parameswaran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2025,1,22]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.14818"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1530\/ERC-13-0415"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1530\/EO-22-0091"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/er.2017-00062"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/s41574-024-01024-5"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210\/js.2017-00330"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1097\/HJH.0000000000002438"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.4103\/ijem.IJEM_558_16"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-19-0159"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.936178"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2015.09.006"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/nrc3648"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1093\/pch\/pxab070"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.3332\/ecancer.2017.761"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1210\/endrev\/bnad011"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2022.942741"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1111\/cen.14955"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1111\/cen.14818"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-022-01270-4"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1210\/endrev\/bnab019"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.3803\/EnM.2017.32.2.152"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.07.014"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.26501"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1126\/science.abi8207"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1111\/cen.14053"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccr.2013.04.018"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.33997"}],"container-title":["Case Reports in Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/cro\/article-pdf\/18\/1\/255\/4326439\/000543615.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/cro\/article-pdf\/18\/1\/255\/4326439\/000543615.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:11:02Z","timestamp":1745421062000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000543615"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,22]]},"references-count":28,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,1,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000543615","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.28252139","asserted-by":"subject"}]},"ISSN":["1662-6575"],"issn-type":[{"type":"electronic","value":"1662-6575"}],"subject":[],"published":{"date-parts":[[2025,1,22]]}}}