Genetic Analysis of Pediatric Pancreatoblastoma: A Case Report

Pediatric pancreatoblastoma (PBL) is a rare disease, and the treatment of which is diverse. The molecular alteration in pancreatoblastoma is not very clear. A 7-year-old female who presented with intermittent abdominal pain, anorexia, and abdominal mass was admitted in our hospital. Pancreaticoduodenectomy, cholecystectomy, and retroperitoneal lymph node dissection were conducted. Immunohistochemistry results after surgery showed creatine kinase +, clusters differentiation 56 -, clusters differentiation 99 +, carcinoembryonic antigen -, periodic acid-Schiff +, B- catenin +, Ki-67 + 70%, progesterone receptor +, neuron-specific enolase -, vimentin -, and insulin -. According to the cell shape and the results of immunohistochemistry, the patient was diagnosed with PBL. The tumor tissue, adjacent tissue, and blood were collected. Mutation profiles were detected using next-generation sequencing technique with a panel of 704 genes. The child recovered well without complications postoperatively. There were 261 genes mutated in her plasma or tumor tissue (mutant frequency ≥1%). The adjacent tissue and plasma harbored the echinoderm microtubule-associated protein-like 4 gene-anaplastic lymphoma kinase fusion and tumor tissue harbored proto-oncogene receptor tyrosine kinase 1-solute carrier family 34 member A2 fusion. The gene alteration profiles of PBL patients warrant further investigations, which may provide new insight into the treatment of this disease.