Although it is the most common biliary tumor in children, BRMS comprises only about 1% of all rhabdomyosarcomas[1-3
]. BRMS usually arises in the CBD, but may originate from anywhere along the biliary tree. Positive regional lymph nodes or distant metastases were present at diagnosis in nearly 25% of children in one series[4
]; and hepatic, pulmonary, peritoneal and bone metastases have been described.
Median age at presentation is 3 years and males are affected more often than females[1
]. Presenting signs and symptoms include jaundice, scleral icterus, pruritus, acholic stools and abdominal pain or distention. Fever, vomiting, diarrhea, malaise and anorexia occur less frequently.
Laboratory evaluation of patients reveals AP and gamma glutamyl-transferase elevation out of proportion to transaminases and a variable increase in CB depending on the extent of biliary obstruction. As in our patient, imaging shows a dilated biliary tree and may demonstrate an obstructive soft-tissue density.
Treatment protocols developed by the Soft Tissue Sarcoma Committee of the Children’s Oncology Group, formerly the Intergroup Rhabdomyosarcoma Study Group (IRSG), stratify patients according to the site and size of the tumor, histologic subtype, degree of surgical resection and presence or absence of nodal disease or distant metastases. Although early case series advocated primary surgical resection together with chemotherapy and radiotherapy, a review by Spunt and colleagues[4
] described the clinical features and outcomes of 25 children with BRMS and questioned the necessity of aggressive surgical excision for patients with tumors in this primary site. In their series, only six patients underwent gross tumor resections, of which, only two resulted in negative margins. In spite of residual tumor burden, however, 92% of patients who survived post-operatively remained disease-free. Moreover, they found that complications were more frequent in patients who underwent primary resection, these included ascending cholangitis, peritonitis, small bowel obstruction and peptic ulcer disease. The estimated five-year survival for all patients with BRMS in this study was 66%; patients with local/regional disease fared better with 78% survival at five years[4
BRMS is a rare malignancy of childhood that presents with clinical and radiographic evidence that can mimic choledochal cysts. With highly effective chemotherapy, ERCP is an important diagnostic and therapeutic modality that may obviate the need for early and aggressive surgery in patients with BRMS.