Punnen Subin, Csizmok Veronika, Frey Connor, Gilbert Richard, Schaeffer David F, Yip Stephen, Marra Marco A, Laskin Janessa, Bleszynski Michael, Owen Daniel R
Division of General Surgery, Department of Surgery, Vancouver General Hospital, Vancouver, BC, Canada.
Canada's Michael Smith Genome Sciences Centre at BC Cancer, Vancouver, BC, Canada.
Case Rep Oncol. 2025 Feb 19;18(1):420-428. doi: 10.1159/000544747. eCollection 2025 Jan-Dec.
Pancreatic hepatoid carcinoma (PHC) is a rare and poorly characterized malignancy, with approximately 50 reported cases in the literature. Pure PHC, which lacks any features of adenocarcinoma or neuroendocrine differentiation, is a subset of this population and is extremely rare. Data on its management and genomic findings are limited, and further characterization may provide helpful information in caring for these patients.
A 42-year-old female was found to have a large, well-circumscribed mass in the body of the pancreas with elevated serum alpha-fetoprotein. Imaging demonstrated an 8.5 cm pancreatic lesion with no other disease. Endoscopic ultrasound-guided biopsy revealed a bile-producing carcinoma with morphological and immunohistochemical features consistent with hepatocellular carcinoma. She underwent a subtotal pancreatectomy and splenectomy, and pathologic evaluation confirmed a well-differentiated pure PHC confined to the pancreas. Whole genome and transcriptome analysis showed microsatellite stability, an elevated tumour mutation burden, copy number alterations in Chr19p13.3, and no mutations typically seen in pancreatic ductal adenocarcinoma (PDAC). These findings support the diagnosis of a pure hepatoid carcinoma with clinical, histopathological, and genomic characteristics resembling hepatocellular carcinoma. She remains disease free at 9 months without adjuvant therapy.
This case demonstrates further characterization of a rare pancreatic lesion and illustrates the importance of integrated histopathological and genomic analyses in characterizing rare malignancies. Additionally, our findings suggest that pure PHC may be a distinct entity rather than a variant of PDAC.
胰腺肝样癌（PHC）是一种罕见且特征不明的恶性肿瘤，文献报道约50例。纯PHC缺乏腺癌或神经内分泌分化的任何特征，是该群体中的一个子集，极为罕见。关于其治疗和基因组学发现的数据有限，进一步的特征描述可能为这些患者的护理提供有用信息。
一名42岁女性被发现胰腺体部有一个边界清晰的大肿块，血清甲胎蛋白升高。影像学检查显示胰腺有一个8.5厘米的病变，无其他疾病。内镜超声引导下活检显示为产生胆汁的癌，其形态和免疫组化特征与肝细胞癌一致。她接受了胰腺次全切除术和脾切除术，病理评估证实为局限于胰腺的高分化纯PHC。全基因组和转录组分析显示微卫星稳定、肿瘤突变负荷升高、19号染色体p13.3区域的拷贝数改变，且无胰腺导管腺癌（PDAC）常见的突变。这些发现支持了一种具有类似肝细胞癌临床、组织病理学和基因组特征的纯肝样癌的诊断。她在未接受辅助治疗的情况下9个月无疾病复发。
本病例展示了对一种罕见胰腺病变的进一步特征描述，并说明了综合组织病理学和基因组分析在罕见恶性肿瘤特征描述中的重要性。此外，我们的发现表明纯PHC可能是一个独特的实体，而非PDAC的一种变体。
