Pediatr Dev Pathol. 2025 Nov 1:10935266251389480. doi: 10.1177/10935266251389480. Online ahead of print.
ABSTRACT
Pancreatoblastoma is a rare malignancy that primarily affects children and involves abnormalities in the WNT/β-catenin signaling pathway. It demonstrates diverse differentiation mimicking fetal pancreatic development resulting in different histologic patterns including variable acini, ducts, and neuroendocrine cells, often with distinct squamoid nests. We present a notable case of pancreatoblastoma in a 5-year-old girl, who was found to have a large solid mass in her pancreatic tail with elevated blood AFP levels. Histologically, the tumor showed primitive epithelial cells with partial endocrine differentiation and focal squamoid features. Molecular testing detected NRAS and TP53 mutations, along with numerous copy number alterations. NRAS mutations have never been reported in pancreatoblastoma to our best knowledge. The case expands the genetic landscape of pancreatoblastoma and may be helpful for identification of a targeted therapy in the future.
PMID:41175041 | DOI:10.1177/10935266251389480
