Ghannei Olfa, Amor Soumaya Ben, Trimech Mayada
Department of Gastroenterology, University hospital Tahar Sfar Mahdia, Tunisia.
Department of Gastroenterology, University hospital Tahar Sfar Mahdia, Tunisia.
Int J Surg Case Rep. 2025 Aug;133:111524. doi: 10.1016/j.ijscr.2025.111524. Epub 2025 Jun 16.
Biliary hamartomas are uncommon, benign anomalies of the intrahepatic bile ducts, typically asymptomatic and identified incidentally during imaging or surgery. Although malignant transformation into cholangiocarcinoma is exceptionally rare, it presents considerable diagnostic and therapeutic challenges. Prompt recognition is essential to guide appropriate surgical intervention and improve patient outcomes.
We report the case of a 52-year-old woman, a nonsmoker and non-alcoholic, who presented with progressive abdominal distension and pain for one month. She had no prior history of liver disease, viral hepatitis, parasitic infections, intrahepatic stones, cholangitis, autoimmune diseases or abdominal trauma. On clinical examination, a palpable mass was noted in the right hypochondriac region. Laboratory investigations revealed hypoalbuminemia (1.4 g/dL) (not due to liver cirrhosis, as clinical and imaging findings excluded it), elevated liver enzymes (ALT 78 U/L, AST 67 U/L, GGT 67 U/L, ALP 330 U/L), and an elevated CA19-9 level (65 U/mL), with otherwise normal hematological and tumor marker profiles. Imaging studies demonstrated a 10 × 7 cm multilocular cystic lesion in the left liver lobe without evidence of vascular or nodal involvement. A preoperative diagnosis of cholangiocarcinoma or intraductal papillary neoplasm of the bile duct (IPNB) was considered. Liver biopsy revealed biliary hamartoma. Due to the lesion's size and malignant suspicion, laparoscopic left hepatectomy with regional lymphadenectomy was performed.
Compared to previously reported 35 cases (mean age 69.7 year, male predominance), our patient was a younger female with a tumor in the left lobe. The case was managed laparoscopically, and was initially suspected as IPNB, adding unique diagnostic and management insights. Histopathological examination confirmed cholangiocarcinoma arising from a biliary hamartoma. Immunohistochemistry showed positivity for CK-19 and p53, supporting the diagnosis. The normalization of CA19-9 levels postoperatively and absence of recurrence at 6 months follow-up support successful surgical management. This case illustrates the uncommon risk of malignant transformation in biliary hamartomas and emphasizes the need for thorough diagnostic assessment and prompt surgical management.
While biliary hamartomas are generally benign, the rare possibility of their progression to cholangiocarcinoma should be carefully considered, particularly when imaging reveals atypical features or tumor markers are elevated. In such scenarios, surgical resection remains the definitive treatment with promising prognostic outcomes.
胆管错构瘤是肝内胆管的罕见良性异常，通常无症状，在影像学检查或手术中偶然发现。尽管其恶变为胆管癌极为罕见，但却带来了相当大的诊断和治疗挑战。及时识别对于指导恰当的手术干预及改善患者预后至关重要。
我们报告一例52岁女性患者，不吸烟、不饮酒，出现进行性腹胀和腹痛1个月。她既往无肝病、病毒性肝炎、寄生虫感染、肝内结石、胆管炎、自身免疫性疾病或腹部外伤史。临床检查发现右季肋区可触及肿块。实验室检查显示低白蛋白血症（1.4g/dL）（并非由肝硬化所致，因为临床和影像学检查结果排除了肝硬化）、肝酶升高（谷丙转氨酶78U/L、谷草转氨酶67U/L、γ-谷氨酰转肽酶67U/L、碱性磷酸酶330U/L）以及糖类抗原19-9水平升高（65U/mL），而血液学和肿瘤标志物检查其他指标均正常。影像学检查显示左肝叶有一个10×7cm的多房囊性病变，无血管或淋巴结受累迹象。术前考虑诊断为胆管癌或胆管内乳头状肿瘤（IPNB）。肝脏活检显示为胆管错构瘤。由于病变大小及恶性可疑性，遂行腹腔镜下左肝切除术及区域淋巴结清扫术。
与先前报道的35例病例（平均年龄69.7岁，男性居多）相比，我们的患者为较年轻女性，肿瘤位于左叶。该病例采用腹腔镜手术治疗，最初怀疑为IPNB，这为诊断和治疗提供了独特的见解。组织病理学检查证实为起源于胆管错构瘤的胆管癌。免疫组化显示细胞角蛋白-19（CK-19）和p53呈阳性，支持诊断。术后糖类抗原19-9水平恢复正常，随访6个月无复发，支持手术治疗成功。该病例说明了胆管错构瘤恶变的罕见风险，并强调了进行全面诊断评估和及时手术治疗的必要性。
虽然胆管错构瘤通常为良性，但应仔细考虑其进展为胆管癌的罕见可能性，尤其是当影像学显示非典型特征或肿瘤标志物升高时。在这种情况下，手术切除仍然是具有良好预后的确定性治疗方法。
