Embryonal rhabdomyosarcoma of the biliary tree: A rare cause of obstructive jaundice in children which can mimic choledochal cysts

Abstract

Jaundice in children is more often due to hepatic disease than obstruction. Differential considerations for obstructive jaundice in children include choledocholithiasis, choledochal cysts and rare neoplasms. Rhabdomyosarcoma, the most common soft tissue sarcoma in pediatric patients, typically involves the head and neck, genitourinary system and extremities. Embryonal rhabdomyosarcoma of the biliary tree is a rare entity. We present a 3-year-old boy with abrupt onset obstructive jaundice. Although initial imaging suggested a dilated biliary system with fusiform common bile duct, sludge, and possible cholelithiasis, endoscopic retrograde cholangiopancreatogram (ERCP) diagnosed a common bile duct embryonal rhabdomyosarcoma and further imaging showed involvement of the cystic duct. This case illustrates the importance of considering malignant etiologies in cases of obstructive jaundice, particularly when imaging is not classic for common causes.

Embryonal rhabdomyosarcoma of the biliary tree in a paediatric patient – A rare cause of obstructive jaundice

“…2 Given the low incidence of biliary RMS, the diagnosis is challenging, making the imaging evaluation of particular importance in defining the site of origin and tumour extent. 3 In addition, as a result of the sheltered location of these masses, they are discovered very late, as in our patient, making it difficult to determine the precise organ of origin, and further complicating the diagnosis and potential management. 1 This case report aims to highlight this diagnosis and justify the inclusion of biliary RMS in the differential diagnoses of a child presenting with obstructive jaundice.…”

“…4 In the Intergroup Rhabdomyosarcoma Studies I–IV between 1972 and 1998, of all the cases of RMS, only 0.5% of cases involved the biliary tree. 3…”

“…7,8 This is frequently also accompanied by elevated liver enzymes and conjugated bilirubin. 3 Less commonly, pain, nausea, vomiting and fever may also be noticed. 2 Unlike RMS at other sites, RMS of biliary pathology usually suggests embryonic origin, and in children, there are no neoplasms that arise from the bile duct other than RMS.…”

“…Rhabdomyosarcoma (RMS) is a malignant tumour of skeletal cell morphology, with the most common sites in the paediatric population being the head and neck, genitourinary system and extremities. 1,2,3 Embryonal biliary RMS is considered a rare entity with only about 50 cases being described in the literature, the largest being a series involving 25 patients over a period of 25 years. 2 Given the low incidence of biliary RMS, the diagnosis is challenging, making the imaging evaluation of particular importance in defining the site of origin and tumour extent.…”

“…1 This case report aims to highlight this diagnosis and justify the inclusion of biliary RMS in the differential diagnoses of a child presenting with obstructive jaundice. 3,4…”