Rhabdoid tumors of the liver: rare, aggressive, and poorly responsive to standard cytotoxic chemotherapy.

ABSTRACT

BACKGROUND: Rhabdoid tumors of the liver are rare tumors that are difficult to cure. We compiled all the cases previously reported in the literature to review clinical data, treatments, and outcomes. PROCEDURE Patients were identified by literature review using PubMed. RESULTS: Thirty-four patients were identified. The median age at presentation was 8 months. All patients with reported AFP results exhibited normal or minimally increased serum AFP levels. All 10 tumors with reported INI1 immunohistochemistry results were reported as negative. Twenty-one patients presented with metastatic disease at diagnosis. Thirty patients died of disease or treatment complications. Most deaths occurred within 12 months after diagnosis. Five patients survived at the time of the reports with one patient alive with disease. One patient relapsed and subsequently died after the report was published. Of the four patients alive without disease, all were treated with chemotherapy, and at least three had surgery or transplantation. Two patients received radiation therapy but did not survive. CONCLUSIONS: Rhabdoid tumors of the liver are aggressive, rare tumors of the infant liver that are often associated with metastases at the time of diagnosis. Mortality is high and often occurs soon after diagnosis. Treatment with aggressive chemotherapy in combination (especially an alkylating agents doxorubicin) with complete resection may lead to improved outcomes. Therapy targeted to the INI1 mutation of these tumors is currently being investigated and may offer greater hope of cure.