Multimodality imaging in the diagnosis of biliary rhabdomyosarcoma in a young child: a case report
Tianjiao Huang1, Peng Wang2, Danqing Huang1
1Department of Ultrasound, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China.
Insights
Pediatric rhabdomyosarcoma (RMS) rarely involves the bile duct. Multimodality imaging is essential for diagnosing this rare biliary RMS, guiding treatment, and improving patient outcomes.
Area of Science:
- Pediatric Oncology
- Medical Imaging
- Surgical Pathology
Background:
- Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma.
- Biliary involvement in pediatric RMS is exceptionally rare, occurring in only 0.5% of cases.
Background:
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children, but biliary involvement is extremely rare, accounting for approximately 0.5% of all pediatric RMS cases.
Case Presentation:
We report a 2-year-11-month-old girl presenting with obstructive jaundice, whose condition was initially misdiagnosed as choledochal cysts. Multimodality imaging-ultrasound, contrast-enhanced computed tomography (CT), magnetic resonance imaging (MRI)/ magnetic resonance cholangiopancreatography (MRCP), and positron emission tomography (PET)-CT-revealed a solid hilar mass with biliary dilation. This integrated imaging approach guided subsequent endoscopic retrograde cholangiopancreatography (ERCP) with stenting and open biopsy. Histopathology confirmed embryonal RMS (MyoD1+/Myogenin+). The patient was staged as intermediate-risk (stage III) and received vincristine, actinomycin D, and cyclophosphamide (VAC) chemotherapy.
Conclusion:
Multimodality imaging is critical for timely diagnosis and staging of biliary RMS, enabling accurate biopsy and guiding multidisciplinary management.
