This 4 year old girl was noted by her mother to be jaundiced but otherwise unremarkable. Laboratory
findings included a total bilirubin of 5.2 mg/Dl with a direct portion of 4.9 mg/dl. CT demonstrated a
mass lesion in the hilus of the liver.
Diagnosis: Embryonal Rhabdomyosarcoma of the Biliary Tree
Embryonal rhabdomyosarcoma of the biliary tree is a rare though highly malignant lesion occurring
almost exclusively in children. It grows along and within the common bile duct and major hepatic ducts,
producing obstruction and jaundice. Long-term survival is poor.
Although the most common sarcoma in the pediatric patient, rhabdomyosarcoma of the liver accounts
for only 0.8% of all rhabdomyosarcomas and 1.0% of all liver tumors.1 The lesion is seen primarily (75%
of cases) in children under 5 years of age, and rarely in those over 15 years.2-4
Jaundice is seen as the presenting symptom in 60% to 80% of cases and may be accompanied by
cholemia, pale stools, and hepatomegaly, often confused with infectious hepatitis. Other symptoms
include fever, abdominal distention, nausea, and vomiting. The jaundice is reflected in moderate
elevations of conjugated and unconjugated bilirubin, with total bilirubin of 1.5 to 9.0 mg/dl. Alkaline
phosphatase may also be elevated along with a mild rise in SGOT. Imaging studies, including CT, MRI,
ultrasonography, and cholangiography may clearly demonstrate the site of obstruction within the
intrahepatic ductal structures.5
Treatment has aimed at surgical resection, although complete resection is possible in only 20% to
40% of patients because of extension of the tumor into the liver, regional metastasis, and local
extension to the duodenum, stomach, and pancreas.1, 6, 7 Recent preoperative therapy using standard
protocols for embryonal rhabdomyosarcoma has proved effective with Pollono et al reporting complete
remission using a multi-drug protocol as the initial treatment of a 3-year-old girl after obtaining
adequate transparietohepatic biliary drainage.] Long-term survival of approximately 20% in previous years
has risen for patients treated with preoperative chemotherapy and surgical A second-look @.8
Grossly, the tumor often presents as a botryoid, gelatinous mass occluding the lumen of the right and
left or common bile duct. The ducts proximal to the lesion are frequently dilated, and the walls of the
duct containing the lesion are thickened. The tumor may extend into the liver as a soft lobulated
Microscopically, the botryoid masses within the bile ducts are covered by a layer of cuboidal
epithelium (bile duct epithelium) that may be inflamed or ulcerated. Beneath the epithelium lies a dense
layer of tumor cells, the upper portion of the A cambium @ layer. Cells within this area are small and
hyperchromatic, with scant cytoplasm. Deeper to the bile duct epithelium the cells lie in a loose myxoid
stroma and exhibit the typical features of embryonal rhabdomyosarcoma with round, spindle, or A strap @
shapes; elongate nuclei: scant acidophile cytoplasm; and frequent mitoses. As with other
rhabdomyosarcomas, cross-striations may occasionally be found, but immunohistochemistry studies are
consistently positive for desmin, with myoglobin and myosin identified in more differentiated cells. The
tumor is usually highly vascular, and areas of recent and remote hemorrhage and acute and chronic
inflammation may be found throughout the lesion. The adjacent hepatic parenchyma is often compressed,
and bile may be present within canaliculi and hepatocytes.
- Stocker, J.T., Hepatic tumors in children. Clin Liver Dis, 2001. 5(1): p. 259-81, viii-ix.
- Donnelly, L.F., G.S. Bisset, 3rd, and D.P. Frush, Diagnosis please. Case 2:
Embryonal rhabdomyosarcoma of the biliary tree. Radiology, 1998. 208(3): p. 621-3.
- Sanz, N., et al., Rhabdomyosarcoma of the biliary tree. Pediatr Surg
Int, 1997. 12(2/3): p. 200-1.
- Lee, M.J., et al., Biliary tree rhabdomyosarcoma: report of one case.
Chung Hua Min Kuo Hsiao Erh Ko I Hsueh Hui Tsa Chih, 1996. 37(6): p. 458-60.
- Roebuck, D., et al., Hepatobiliary rhabdomyosarcoma in children: diagnostic
radiology. Pediatr Radiol, 1998. 28(2): p. p101-8.
- Ferlicot, S., et al., [Unusual site of an embryonal rhabdomyosarcoma of the
mesenchymal hepatic pedicle]. Ann Pathol, 1999. 19(6): p. 521-4.
- Balkan, E., et al., Rabdomyosarcoma of the biliary tree. Turk J Pediatr,
1999. 41(2): p. 245-8.
- Pollono, D.G., et al., Rhabdomyosarcoma of extrahepatic biliary tree: initial
treatment with chemotherapy and conservative surgery. Med Pediatr Oncol, 1998. 30(5): p. 290-3.
- Davis, G.L., J.M. Kissane, and K.G. Ishak, Embryonal rhabdomyosarcoma
(sarcoma botryoides) of the biliary tree. Report of five cases and a review of the literature.
Cancer, 1969. 24(2): p. 333-42.