Abstract：
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.
摘要：
儿科胰腺腺泡细胞癌（PACC）提出了诊断挑战，由于罕见，经常与胰母细胞瘤（PB）混淆。区分PB和PACC至关重要，鉴于他们独特的治疗策略和预后。组织学上,没有鳞状细胞巢和肿瘤间充质的缺乏支持PACC。相反，BRAF改变的识别倾向于PACC。这里,我们介绍了一个8岁女孩的胰腺肿块。肿瘤显示SEC31A-BRAF融合基因和18p扩增，显示明确的腺泡分化和轻微的神经内分泌分化。此外,肿瘤显示很少的纤维基质，没有鳞片状的巢，进一步支持PACC。值得注意的是,这是首次报道的以SEC31A-BRAF基因融合为特征的实体瘤。这种新型融合基因的发现扩展了我们对BRAF融合伴侣谱的理解，特别是在儿科PACC的背景下。
