Święszkowska Ewa, Broniszczak Dorota, Kaliciński Piotr, Szymczak Marek, Stefanowicz Marek, Grajkowska Wiesława, Dembowska-Bagińska Bożenna
Department of Oncology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
Department of Pediatric Surgery and Organ Transplantation, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
Cancers (Basel). 2024 Sep 9;16(17):3110. doi: 10.3390/cancers16173110.
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%。尽管如此，它仍是儿童该部位最常见的恶性肿瘤。因其罕见性和部位特殊性，可能导致诊断和治疗困难。最重要的是，目前尚无针对该肿瘤部位的特异性治疗指南。本研究旨在分析我们治疗儿童胆道横纹肌肉瘤（RMS）的经验，并讨论文献中针对该特定部位的临床建议。对1996年至2022年期间在一个中心接受治疗的8例胆道树RMS患儿的病历进行回顾性分析。分析了8例患儿的记录，其中5例男孩，3例女孩，年龄为2岁6个月至16岁9个月（中位年龄6岁）。所有患者均以黄疸为首发症状。2例患者最初确诊为肿瘤。其余6例的初步诊断如下：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。4例患者肝外胆管受累；4例患者肝内和肝外胆管均受累。7例患者诊断为胚胎型RMS（3例葡萄状型）。1例患者为腺泡型RMS。7例患者进行了活检（3例手术活检，4例在内镜逆行胰胆管造影术（ERCP）期间活检）。1例患儿接受了原发性肿瘤部分切除术（R2）。7例患者接受了新辅助化疗，其中5例随后进行了延迟切除术，包括1例肝移植（5例为R0）。2例患者未接受手术。4例患者接受了放疗（2例一线治疗，2例复发/进展时治疗）。6例患者（75%）存活且无疾病证据，随访时间为1.2年至27年（中位时间11年4个月）。2例患者死于疾病，分别在诊断后2年9个月和3年7个月。出现梗阻性黄疸的儿童应评估是否患有胆道RMS。治疗策略应包括活检和术前化疗，随后进行肿瘤切除术，并对残留病灶及复发时进行放疗。
