Rhabdomyosarcoma (RMS) of the biliary tract is a rare tumor in children, constituting 0.5–0.8% of all pediatric RMS. Still, it is the most common malignancy in this location in children. Due to its rarity and location, it may cause diagnostic and treatment difficulties. Above all, there are no therapeutic guidelines specific for this tumor location. The aim of the study was to present an analysis of our experience with the treatment of children with biliary tract rhabdomyosarcoma (RMS) and discuss clinical recommendations for this specific location published in the literature. A retrospective analysis of medical records of eight children with biliary tree RMS treated in one center between 1996–2022 was performed. Records of eight children, five boys and three girls aged 2 yrs 6 mo to 16 yrs 9 mo (median—6 yrs) were analyzed. All patients presented with jaundice as the first symptom. In two patients, initial diagnosis of a tumor was established. For the remaining six, the primary diagnoses were as follows: choledochal cyst—one, malformation of the biliary ducts—one, choledocholithiasis—one, cholangitis—three. In four patients, the extrahepatic bile ducts were involved; in four patients, both the intrahepatic and extrahepatic bile ducts were involved. Embryonal RMS was diagnosed in seven patients (three botryoides type). Alveolar RMS was found in one patient. Biopsy (three surgical, four during endoscopic retrograde cholangiopancreatography (ERCP)) was performed in seven patients. One child underwent primary partial tumor resection (R2). Seven patients received neoadjuvant chemotherapy, followed by delayed resection in five, including liver transplantation in one (five were R0). Two patients did not undergo surgery. Radiotherapy was administered in four patients (two in first-line treatment, two at relapse/progression). Six patients (75%) are alive with no evidence of disease, with follow-up ranging from 1.2 yrs to 27 yrs (median 11 yrs. and 4 mo.). Two patients died from disease, 2 y 9 mo and 3 y 7 mo from diagnosis. Children presenting with obstructive jaundice should be evaluated for biliary tract RMS. The treatment strategy should include biopsy and preoperative chemotherapy, followed by tumor resection and radiotherapy for residual disease and in case of relapse.
胆道横纹肌肉瘤（RMS）是儿童罕见肿瘤，占所有儿童RMS的0.5–0.8%，但仍是该部位最常见的儿童恶性肿瘤。由于其罕见性和特殊解剖位置，该病在诊断和治疗方面均存在困难，且目前缺乏针对该部位肿瘤的特异性治疗指南。本研究旨在分析我院儿童胆道RMS的治疗经验，并结合文献探讨该特殊部位肿瘤的临床诊疗建议。我们对1996年至2022年间单中心收治的8例胆道RMS患儿病历进行回顾性分析。8例患儿中男性5例，女性3例，年龄范围2岁6个月至16岁9个月（中位年龄6岁）。所有患儿均以黄疸为首发症状，其中2例初诊即确诊肿瘤，其余6例初步诊断为：胆总管囊肿1例、胆管畸形1例、胆总管结石1例、胆管炎3例。病变累及肝外胆管者4例，同时累及肝内外胆管者4例。组织学类型包括胚胎型RMS 7例（其中葡萄簇型3例），腺泡型RMS 1例。7例患儿接受活检（3例手术活检，4例经内镜逆行胰胆管造影活检），1例患儿接受原发性肿瘤部分切除术（R2切除）。7例患儿接受新辅助化疗，其中5例后续接受延迟切除术（含肝移植1例，均实现R0切除），2例未行手术。4例患儿接受放疗（2例为一线治疗，2例在复发/进展期）。截至随访终点（中位随访时间11年4个月，范围1.2–27年），6例（75%）患儿存活且无疾病证据，2例分别于确诊后2年9个月和3年7个月因疾病死亡。对于表现为梗阻性黄疸的儿童，临床评估需考虑胆道RMS可能。治疗策略应包括活检、术前化疗、肿瘤切除术，并对残留病灶及复发患者辅以放疗。
Rhabdomyosarcoma of the Biliary Tract in Children: Analysis of Single Center Experience
肿瘤(癌症)患者之家