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- Title
A 6-year-old boy with an atypical liver neoplasm harboring a novel RPS6KA3 variant.
- Authors
Bustamante, Daniel; Abadie, Jude
- Abstract
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.
- Subjects
LIVER tumors; ABDOMINAL pain; FEVER; TREATMENT effectiveness; CANCER chemotherapy; NEEDLE biopsy; HISTOLOGICAL techniques; GENETIC mutation; RIBOSOMAL proteins; PATIENT aftercare
- Publication
Laboratory Medicine, 2024, Vol 55, Issue 3, p391
- ISSN
0007-5027
- Publication type
Article
- DOI
10.1093/labmed/lmad061