肝内胆管癌 (ICC) 是一种严重的肝癌，占所有肝脏恶性肿瘤的 20%，并且由于其通常无症状而难以早期诊断。本病例报告记录了一种罕见的 ICC 表现，伴有多个弥漫性结节，此前医学文献中未曾记录。一名 65 岁男性，无明显病史，出现背痛、厌食和体重明显减轻。尽管影像学未显示原发性肝脏肿块，但观察到肿瘤标志物升高和淋巴结肿大。诊断工作，包括计算机断层扫描和正电子发射断层扫描以及淋巴结和骨髓活检，提示原发性腺癌不明。尸检后才做出明确诊断，显示肝脏中存在多个弥漫性结节，被确定为 ICC，这是一种罕见的无原发肿块的表现。该病例凸显了非典型 ICC 表现带来的诊断挑战，其中典型影像学并不表明原发肿块，从而延误了诊断和治疗。研究结果强调了在未知原发性腺癌伴肝脏受累病例的鉴别诊断中考虑 ICC 的重要性。具有弥漫性浸润结节的 ICC 的发现强调了对出现非特异性全身症状和异常肝脏检查结果的患者进行全面诊断评估的必要性。© 2024。日本胃肠病学会。

Intrahepatic cholangiocarcinoma (ICC), a severe liver cancer, makes up to 20% of all hepatic malignancies and is difficult to diagnose early due to its often asymptomatic nature. This case report documents a rare presentation of ICC with multiple diffuse nodules not previously recorded in medical literature. A 65-year-old man with no significant medical history presented with back pain, anorexia, and significant weight loss. Elevated tumor markers and enlarged lymph nodes were observed, though imaging did not reveal a primary liver mass. Diagnostic efforts, including computed tomography and positron emission tomography scans and biopsies of lymph nodes and bone marrow, suggested adenocarcinoma of unknown primary origin. A definitive diagnosis was only made post-mortem, revealing multiple diffuse nodules in the liver identified as ICC, marking a rare presentation without a primary mass. This case highlights the diagnostic challenges posed by atypical ICC manifestations, where typical imaging does not indicate a primary mass, delaying diagnosis and treatment. The findings emphasize the importance of considering ICC in differential diagnoses in cases of unknown primary adenocarcinoma with liver involvement. The discovery of ICC with diffusely infiltrative nodules underscores the necessity for comprehensive diagnostic evaluations in patients presenting with nonspecific systemic symptoms and abnormal liver findings.© 2024. Japanese Society of Gastroenterology.