Paediatric pancreatic acinar cell carcinoma with a novel SEC31A-BRAF fusion gene

Paediatric pancreatic acinar cell carcinoma (PACC) presents a diagnostic challenge, often confused with pancreatoblastoma (PB) due to its rarity. It is crucial to differentiate between PB and PACC, given their distinct therapeutic strategies and prognoses. Histologically, the absence of squamoid nests and scarcity of tumor mesenchyme support PACC. Conversely, the identification of a BRAF alteration leans towards PACC. Here, we present the case of an 8-year-old girl with a well-defined mass in the pancreas. The tumor exhibited a SEC31A-BRAF fusion gene and amplification of 18p, showcasing unequivocal acinar differentiation and a minor degree of neuroendocrine differentiation. Additionally, the tumor displayed scant fibrous stroma, and an absence of squamoid nests, further supporting PACC. Notably, this is the first reported instance of a solid tumor featuring a SEC31A-BRAF gene fusion. The discovery of this novel fusion gene expands our understanding of BRAF fusion partner profiles, particularly in the context of paediatric PACC.