Pediatric pancreatic acinar cell carcinoma with a non-canonical BRAF-KMT2C fusion and a classic SND1-BRAF fusion: a case report and literature review.

ABSTRACT:

Background

Pediatric pancreatic acinar cell carcinoma (PACC) is an exceptionally rare and poorly understood malignancy with a challenging prognosis. Its clinical presentation is often atypical, and standardized treatment guidelines are currently unavailable. While genetic alterations in adult PACC have been studied to some extent, knowledge of genetic abnormalities in pediatric cases remains limited.

Case presentation

We report a case of pediatric PACC in a 7-year-old male presenting with a large, non-tender abdominal mass (11 cm x 11 cm) on the right side. Pathological and imaging evidence confirmed the diagnosis of PACC, with no lymph node infiltration or distant metastasis. Comprehensive genomic profiling by next-generation sequencing identified a non-canonical BRAF fusio

SUBMITTER: Wang Y 

PROVIDER: S-EPMC11760658 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature