{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,2]],"date-time":"2024-05-02T11:10:49Z","timestamp":1714648249644},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2023,7,21]],"date-time":"2023-07-21T00:00:00Z","timestamp":1689897600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,5,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Pediatric hepatoblastoma (HBL) and hepatocellular carcinoma (HCC) are primary liver malignant neoplasms with 5-year event-free survival of &amp;gt;80% and &amp;lt;30%, respectively. In these patients, \u03b1-fetoprotein levels can guide surgical intervention and monitor disease progression. Although histology and immunohistochemical stains support diagnosis, genetic testing can elucidate mechanisms that drive pathogenesis. Pediatric HBL and HCC harbor well-characterized molecular signatures such as alterations in CTNNB1, TERT, and AXIN1 that alter the Wnt\/\u03b2-catenin pathway. Approximately 8% of individuals with HCC harbor RPS6KA3 variants that appear with other gene mutations. Herein, we report a novel solitary pathogenic RPS6KA3 variant finding in a 6-year-old boy whose final diagnosis was hepatocellular malignant neoplasm, not otherwise specified.<\/jats:p>","DOI":"10.1093\/labmed\/lmad061","type":"journal-article","created":{"date-parts":[[2023,7,21]],"date-time":"2023-07-21T15:11:51Z","timestamp":1689952311000},"page":"391-393","source":"Crossref","is-referenced-by-count":0,"title":["A 6-year-old boy with an atypical liver neoplasm harboring a novel <i>RPS6KA3<\/i> variant"],"prefix":"10.1093","volume":"55","author":[{"given":"Daniel","family":"Bustamante","sequence":"first","affiliation":[{"name":"Department of Pathology, Texas Tech University Health Sciences Center , El Paso, TX"},{"name":"El Paso Children\u2019s Hospital , El Paso, TX"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jude","family":"Abadie","sequence":"additional","affiliation":[{"name":"Department of Pathology, Texas Tech University Health Sciences Center , El Paso, TX"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,7,21]]},"reference":[{"issue":"7","key":"2024050210571702500_CIT0001","doi-asserted-by":"crossref","first-page":"27745","DOI":"10.1002\/pbc.27745","article-title":"Characterization of pediatric hepatocellular carcinoma reveals genomic heterogeneity and diverse signaling pathway activation","volume":"66","author":"Haines","year":"2019","journal-title":"Pediatric Blood Cancer"},{"issue":"10","key":"2024050210571702500_CIT0002","doi-asserted-by":"crossref","first-page":"1050","DOI":"10.1200\/JCO.2014.60.2250","article-title":"Hepatocellular carcinoma in children: does modified platinum- and doxorubicin-based chemotherapy increase tumor resectability and change outcome? lessons learned from the SIOPEL 2 and 3 studies","volume":"34","author":"Murawski","year":"2016","journal-title":"J Clin Oncol."},{"issue":"1","key":"2024050210571702500_CIT0003","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1186\/s12943-017-0712-x","article-title":"The biology of hepatocellular carcinoma: implications for genomic and immune therapies","volume":"3016","author":"Khemlina","year":"2017","journal-title":"Mol Cancer."},{"issue":"5","key":"2024050210571702500_CIT0004","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1111\/his.13297","article-title":"Hepatocellular malignant neoplasm, NOS: a clinicopathological study of 11 cases from a single institution","volume":"71","author":"Zhou","year":"2017","journal-title":"Histopathology."},{"key":"2024050210571702500_CIT0005","doi-asserted-by":"crossref","first-page":"115373","DOI":"10.1016\/j.bcp.2022.115373","article-title":"State of the art and perspectives in pediatric hepatocellular carcinoma","volume":"207","author":"Digiacomo","year":"2023","journal-title":"Biochem Pharmacol."},{"issue":"5","key":"2024050210571702500_CIT0006","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1002\/cncr.33319","article-title":"Pediatric hepatic cancer incidence and survival: 30-year trends in Ontario, Canada; the United States; and Australia","volume":"127","author":"Di Giuseppe","year":"2021","journal-title":"Cancer."},{"issue":"35","key":"2024050210571702500_CIT0007","doi-asserted-by":"crossref","first-page":"3980","DOI":"10.3748\/wjg.v24.i35.3980","article-title":"Pediatric hepatocellular carcinoma","volume":"24","author":"Khanna","year":"2018","journal-title":"World J Gastroenterol."},{"issue":"4","key":"2024050210571702500_CIT0008","doi-asserted-by":"crossref","first-page":"5492","DOI":"10.18632\/oncotarget.23695","article-title":"Exon 3 mutations of CTNNB1 drive tumorigenesis: a review","volume":"9","author":"Gao","year":"2017","journal-title":"Oncotarget"},{"issue":"1","key":"2024050210571702500_CIT0009","first-page":"1","article-title":"Molecular signatures of aggressive pediatric liver cancer","volume":"2","author":"Johnston","year":"2021","journal-title":"Arch Stem Cell Ther"},{"issue":"4","key":"2024050210571702500_CIT0010","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1046\/j.1440-1746.2001.02461.x","article-title":"Postoperative detection of \u03b1-fetoprotein mRNA in blood as a predictor for metastatic recurrence of hepatocellular carcinoma","volume":"16","author":"Minata","year":"2001","journal-title":"J Gastroenterol Hepatol."}],"container-title":["Laboratory Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/labmed\/article-pdf\/55\/3\/391\/57370141\/lmad061.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/labmed\/article-pdf\/55\/3\/391\/57370141\/lmad061.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,2]],"date-time":"2024-05-02T10:57:35Z","timestamp":1714647455000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/labmed\/article\/55\/3\/391\/7227605"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,21]]},"references-count":10,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,7,21]]},"published-print":{"date-parts":[[2024,5,2]]}},"URL":"https:\/\/doi.org\/10.1093\/labmed\/lmad061","relation":{},"ISSN":["0007-5027","1943-7730"],"issn-type":[{"value":"0007-5027","type":"print"},{"value":"1943-7730","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,5,1]]},"published":{"date-parts":[[2023,7,21]]}}}