Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Pediatr Transplant. 2024 Mar;28(2):e14732. doi: 10.1111/petr.14732.
Neuroendocrine tumors (NETs) are rare epithelial neoplasms that arise most commonly from the gastrointestinal tract. In pediatrics, the most common site of origin is in the appendix, with the liver being the most common site of metastasis. Neuroendocrine tumors arising from the biliary tract are extremely rare.
We describe a case of a nine-year-old girl who presented with obstructive cholestasis and was found to have multiple liver masses identified on biopsy as well-differentiated neuroendocrine tumor with an unknown primary tumor site.
The patient underwent extensive investigation to identify a primary tumor site, including endoscopy, endoscopic ultrasound, and capsule endoscopy. The patient ultimately underwent definitive management with liver transplant, and on explant was discovered to have multiple well-differentiated neuroendocrine tumors, WHO Grade 1, with extensive infiltration into the submucosa of bile duct, consistent with primary biliary tract neuroendocrine tumor.
Identifying the site of the primary tumor in NETs found within the liver can be challenging. To determine if an extrahepatic primary tumor exists, workup should include endoscopy, EUS, and capsule endoscopy. Children with well-differentiated hepatic NETs, with no identifiable primary tumor, and an unresectable tumor, are considered favorable candidates for liver transplantation.
神经内分泌肿瘤（NET）是一种罕见的上皮性肿瘤，最常见于胃肠道。在儿科，最常见的起源部位是阑尾，最常见的转移部位是肝脏。起源于胆道的神经内分泌肿瘤极为罕见。
我们描述了一例 9 岁女孩，因梗阻性胆汁淤积就诊，活检发现多个肝脏肿块，分化良好的神经内分泌肿瘤，原发肿瘤部位不明。
患者接受了广泛的检查以确定原发肿瘤部位，包括内镜、内镜超声和胶囊内镜。患者最终接受了肝移植的确定性治疗，在肝移植中发现多个分化良好的神经内分泌肿瘤，WHO 分级 1 级，广泛浸润胆管黏膜下层，符合原发性胆道神经内分泌肿瘤。
确定肝脏内神经内分泌肿瘤的原发肿瘤部位可能具有挑战性。为了确定是否存在肝外原发肿瘤，检查应包括内镜、EUS 和胶囊内镜。无明确原发肿瘤且肿瘤不可切除的分化良好的肝 NET 儿童是肝移植的有利候选者。
