Received: 27.01.2008 Accepted: 23.02.2008
J Gastrointestin Liver Dis
March 2009 Vol.18 No 1, 95-97
Address for correspondence:
University of Texas Southwestern
Biliary Rhabdomyoscarcoma Mimicking Choledochal Cyst
Sabina Ali, Michael A. Russo, Linda Margraf
University of Texas, Southwestern Dallas, USA
A 3-year old male presented with complaints of pruritus,
abdominal pain for 3 weeks and jaundice. Stools were acholic.
There was jaundice, liver palpable 3 cm below right costal
margin, no ascites or palpable masses. Serology revealed
albumin 2.9 g/dl; ammonia of 31 mmol/l; elevated conjugated
bilirubin, GGT, ALT, AST and alkaline phosphatase; alpha
fetoprotein 1.3 ngm/ml; BhCG 9.1 IU/; PT 12.3 secs, INR
0.9; negative hepatitis A,B,C serology. CT scan showed
a non-calcified heterogeneously enhancing mass centered
at the liver hilum. MRCP showed a large heterogeneously
enhancing, partially solid mass in the region of the porta
hepatic. Liver biopsy revealed patternless proliferation
of polymorphic oval to spindled shaped neoplastic cells.
There was bile ducts distortion. Immunohistochemistry
revealed positivity for vimentin, desmin.These findings
were diagnostic for biliary rhabdomyosarcoma.There was
no evidence of metastasis. Chemotherapy was initiated.
Repeat imaging 6 months after initiation of treatment showed
improvement in the degree of intrahepatic ductal dilatation
and decrease in tumor bulk size. Rhabdomyosarcoma is
the most common malignant tumor of the biliary tree in
childhood. It is difficult to diagnose and delayed diagnosis
influences the prognosis.
Biliary rhabdomyosarcoma – choledochal cyst – jaundice
– liver tumor.
Rhabdomyosarcoma (RMS), a soft tissue malignant
musculoskeletal tumor, accounts for approximately 1 % of
the cases of cancers among children aged 0-14 years and
2% of the cases among adolescents and young adults aged
15 to 18 years. It is one of the rare causes of biliary tract
obstruction. Nevertheless, it is the most common cause of
obstructive jaundice due to neoplastic biliary obstruction
The first case was reported in 1875 . Rhabdomyosarcoma
involving the liver accounts for 0.8 % of all RMS and 1.3%
of all liver tumors . It almost exclusively occurs in
children; 75% of patients are under 5 years of age with clear
predominance of male patients. About 2% of tumors are
present at birth [1-3]. The tumors are most commonly found
in the hilum of the liver. Intermittent jaundice with or without
abdominal distention, fever and anorexia is the typical
presentation. The radiological appearance of the lesion is
similar to that of a congenital choledochal cyst .
We report the case of a child with obstructive jaundice
secondary to RMS of the biliary tree.
A 3-year old male presented with complaints of pruritus,
epigastric pain for 3 weeks and jaundice for one day with
stools appearing acholic. There was no history of fever,
weight loss, or rashes. There was no contributory family
history and no history of travel, trauma, use of herbal
remedies / supplements or other medications by the patient.
On physical examination the patient was found to have
jaundice, no oral lesions, no cervical adenopathy, normal
bowel sounds, a liver palpable 3cm below the right costal
margin, no ascites or palpable masses and no splenomegaly.
Laboratory studies showed conjugated bilirubin of 7.9
mg/dl; albumin 2.9 g/dl; ammonia of 31 mmol/l; GGT 468
U/l; ALT 149 U/L, AST 155 U/l; AP 1,351 U/L; white cell
count 9,800/mm3; hemoglobin 11.2 g/dl; platelet count of
520,000/mm3; alpha fetoprotein 1.3 ngm/ml; BhCG 9.1
IU/; prothrombin time 12.3 secs, INR 0.9; negative hepatitis
Abdominal ultrasound showed a liver mass. CT
scan of the abdomen (Fig. 1) showed a non-calcified
heterogeneously enhancing mass centered at the liver hilum.
96 Ali et al
This mass had marked intrahepatic ductal dilatation and
dilatation of the common bile duct. Magnetic resonance
cholangiopancreatography (MRCP) (Fig. 2) showed a large
(3.2 cm x 3.6 cm) heterogeneously enhancing, partially
solid mass in the region of the porta hepatis. Microscopic
sections from fluoroscopic-guided liver biopsy revealed a
pleomorphic spindle shaped neoplasm with irregular and
occasionally lobulated hyperchromatic nuclei with abnormal
mitoses. There was distortion of bile ducts consistent with
an infiltrative lesion. Immunohistochemistry revealed
cytoplasmic positivity for vimentin, desmin and focal nuclear
myogenin reactivity within the neoplastic cells (Fig. 3).
These findings were diagnostic for biliary embryonal RMS.
The RMS was classified to be in stage I.
There was no evidence of metastasis. Surgery
was not an option in this case, due to the tumor site.
Chemotherapy consisting of vincristine, actinomycin-D
and cyclophosphamide with mesna was initiated (COG
ARST0331), and was later switched to POG 9803 which
has a higher dose of cyclophosphamide.
Repeat imaging 6 months after initiation of treatment
showed improvement in the degree of intrahepatic ductal
dilatation and decrease in tumor bulk size. The patient
recently received his last dose of chemotherapy. A recent
MRI study showed further regression of the tumor with no
evidence of metastasis.
Fig 1. CT scan: non enhancing complex liver
mass at the liver hilum with intrahepatic
and common bile duct dilatation.
Fig 2. MRCP: large, partially solid mass in
the region of porta hepatis.
Fig 3. Immunohistochemical staining
of RMS. (A) Diffuse and patternless
proliferations of polymorphic oval to
spindled shaped neoplastic cells (H&E
stain) (B) Positive diffuse cytoplasmic
staining for vimentin ; (C) Positive nuclear
staining for myogenin in only occasional
tumor cells; (D) Positive cytoplasmic
immunostaining for desmin.
The diagnosis of biliary RMS can be difficult. It is a
rare, aggressive malignant tumor that typically occurs in
children. It often produces biliary tract obstruction with a
hilar mass leading to signs and symptoms of obstructive
jaundice. Jaundice is seen as a presenting symptom in 60-
80% of cases and may be accompanied by acholic stools and
Biliary rhabdomyoscarcoma 97
hepatomegaly. In patients with jaundice, moderate elevation
of conjugated bilirubin and alkaline phosphatase can occur
with elevation of transaminases.
The Intergroup Rhabdomyosarcoma Study Group (IRSG)
has developed new protocols for children with sarcoma. For
protocol purposes, patients are classified as low, intermediate
or high risk . Staging of RMS is relatively complex . It
includes assigning a local tumor group, staging and assigning
a risk group. The estimated 5 year survival is 66%.
Undetectable distant metastases at diagnosis, grossly
complete surgical removal of localized tumor, botryoid
histology, tumor size <5cm and patient’s age <10 years at the
time of diagnosis are favorable prognostic factors. Treatment
can include surgery (usually biopsy only or subtotal
resection) followed by chemotherapy and radiotherapy .
The extent of surgical resection currently recommended
depends on the primary tumor site, and initial complete
resection is generally recommended if it does not involve
loss of organ function.
Immunohistochemical analysis is very useful in the
diagnosis of embryonal RMS. More than 95% of these
tumors are positive for desmin. In addition, nuclear staining
with myogenin, a gene product that induces skeletal muscle
differentiation, is useful in the diagnosis because of its
specificity for rhabdomyosarcoma . It is important to
know that this very rare childhood tumor can simulate a
congenital choledochal cyst. The presence of a soft tissue
mass in porta hepatis rules out a choledochal cyst as a
potential cause .
To sum up, rhabdomyosarcoma should be considered
in the differential diagnosis of obstructive jaundice in
children. With advances in the combined treatment of
surgery, radiotherapy and chemotherapy, the prognosis has
become much better and the chances of long term survival
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