Malignant rhabdoid tumour of the liver: an unusual case report

Malignant rhabdoid tumour (MRT) is a rare and aggressive childhood neoplasm, first described as an aggressive variant of Wilms’ tumour by Beckwith and Palmer in 1978 [1]. The first case, an infant, with a primary liver neoplasm was described as MRT of the liver in 1982 [2]. Although MRTs are generally seen in the kidneys, primary MRT of liver, retroperitoneum, central nervous system and other sites were reported. Extra-renal malignant rhabdoid tumors are more rare tumors than the former one. Up today less than 40 primary malignant rhabdoid tumors of liver were reported in the literature [3]. One third of the patients have high alpha-fetoprotein (AFP) levels, but two thirds of them have normal AFP levels. Although rare, it should be considered in the differential diagnosis of primary liver tumors with normal AFP.

A 67 year-old man was admitted to our clinic with a 2-month history of abdominal pain and jaundice. Phsysical examination showed hepatomegaly and ascites. The biochemical tests showed aspartate aminotransferase: 85 U/l, alanine aminotransferase: 57 U/l, alkaline phosphatase: 777 U/l, gama glutamil transferase: 1132 U/l and total bilirubin: 8.8 mg/dl. Inflammation markers were elevated (WBC: 18 110/ml and C-reactive protein: 8.75 mg/dl). An abdominal ultrasound showed the multiple heterogenous and hypodense solid lesions of the liver parenchyma and a percutaneous needle liver biopsy was performed. In addition to the masses in the liver and ascites, the abdominal and chest computed tomography (CT) showed a large number of lymphadenopathies on the retroperitoneal, mesenteric and celiac areas as well as a mass in the pancreas. Alpha fetoprotein was 1.5 ng/ml. An upper gastrointestinal endoscopy and a colonoscopy revealed normal findings.

On the immunohistochemical examination of the liver biopsy, the tumour cells stained positively with cytokeratin (AE1+ AE3+), vimentin, epithelial membrane antigen (EMA+); and negatively with CD34, CD99, CD117, CD37, CD45, Hep Par, cytokeratin 20, cytokeratin 7, desmin, TTF-1, glypican, S-100 and melan-a. With histopathological and immunohistochemical features, the patient diagnosed as malignant rhabdoid tumour.

During the clinical follow-up the patient was consulted to medical oncology and, we planned chemotherapy. He died on the 15th day of hospitilization due to multiorgan dysfunction, particularly liver and respiratory failure.

Malignant rhabdoid tumour was...


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