دورية أكاديمية
A 6-year-old boy with an atypical liver neoplasm harboring a novel RPS6KA3 variant.
| العنوان: | A 6-year-old boy with an atypical liver neoplasm harboring a novel RPS6KA3 variant. |
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| المؤلفون: | Bustamante D; Department of Pathology, Texas Tech University Health Sciences Center, El Paso, TX.; El Paso Children's Hospital, El Paso, TX., Abadie J; Department of Pathology, Texas Tech University Health Sciences Center, El Paso, TX. |
| المصدر: | Laboratory medicine [Lab Med] 2024 May 02; Vol. 55 (3), pp. 391-393. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0250641 Publication Model: Print Cited Medium: Internet ISSN: 1943-7730 (Electronic) Linking ISSN: 00075027 NLM ISO Abbreviation: Lab Med Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Oct. 2015- : Oxford, England: Oxford University Press Original Publication: Philadelphia, Lippincott. |
| مواضيع طبية MeSH: | Liver Neoplasms*/genetics , Liver Neoplasms*/diagnosis , Liver Neoplasms*/pathology , Ribosomal Protein S6 Kinases, 90-kDa*/genetics , Ribosomal Protein S6 Kinases, 90-kDa*/metabolism, Humans ; Male ; Child ; Hepatoblastoma/genetics ; Hepatoblastoma/diagnosis ; Hepatoblastoma/pathology ; Carcinoma, Hepatocellular/diagnosis ; Carcinoma, Hepatocellular/genetics ; Carcinoma, Hepatocellular/pathology |
| مستخلص: | Pediatric hepatoblastoma (HBL) and hepatocellular carcinoma (HCC) are primary liver malignant neoplasms with 5-year event-free survival of >80% and <30%, respectively. In these patients, α-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/β-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. (© The Author(s) 2023. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.) |
| فهرسة مساهمة: | Keywords: RPS6KA3 mutation; analytical measurement range; carcinoma; hepatoblastoma; hepatocellular; hepatocellular malignant neoplasm not otherwise specified; α-fetoprotein |
| المشرفين على المادة: | EC 2.7.11.1 (Ribosomal Protein S6 Kinases, 90-kDa) EC 2.7.11.1 (ribosomal protein S6 kinase, 90kDa, polypeptide 3) |
| تواريخ الأحداث: | Date Created: 20230721 Date Completed: 20240502 Latest Revision: 20240520 |
| رمز التحديث: | 20240520 |
| DOI: | 10.1093/labmed/lmad061 |
| PMID: | 37477894 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1943-7730 |
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| DOI: | 10.1093/labmed/lmad061 |