Biliary rhabdomyoscarcoma mimicking choledochal cyst

Area of Science:

• Pediatric Oncology
• Hepatobiliary Surgery
• Diagnostic Imaging

Background:

• Rhabdomyosarcoma is the most common malignant tumor of the biliary tree in childhood.
• Early diagnosis is critical for improving prognosis, yet it remains challenging.

Observation:

• A 3-year-old male presented with pruritus, abdominal pain, and jaundice, along with acholic stools.
• Laboratory tests revealed elevated liver enzymes and bilirubin, with negative viral hepatitis serology.
• Imaging (CT and MRCP) demonstrated a liver hilum mass, and biopsy confirmed biliary rhabdomyosarcoma.

Findings:

• The tumor exhibited a patternless proliferation of neoplastic cells positive for vimentin and desmin.
• No evidence of metastasis was found at diagnosis.
• Chemotherapy led to a decrease in tumor size and improved intrahepatic ductal dilatation on follow-up imaging.

Implications:

• This case highlights the importance of considering rare diagnoses like biliary rhabdomyosarcoma in pediatric patients with obstructive jaundice.
• Prompt diagnosis and multimodal treatment, including chemotherapy, are essential for managing this aggressive malignancy.
• Further research into earlier diagnostic markers and optimized treatment protocols for pediatric biliary rhabdomyosarcoma is warranted.