Mediastinal Germinoma Associated with Hemophagocytic Lymphohistiocytosis: A Case Report

Abstract

Background:  Malignancy-associated hemophagocytic syndrome (MAHS), a secondary form of hemophagocytic lymphohistiocytosis (HLH), can be found with several types of malignancy. It can be manifested either before or after the diagnosis of the underlying malignancy. However, mediastinal germinoma associated HLH has never been reported in previous literatures.
Case report: A 13-year-old boy presented with prolonged fever for 10 days with marked hepatosplenomegaly and progressive bicytopenia. Additional investigations demonstrated hyperferritinemia and increased hemophagocytic activity in the bone marrow without evidence of malignancy, compatible with the diagnosis of HLH. He responded well to the HLH-treatment with intravenous immunoglobulins and dexamethasone, but the HLH recrudesced 5 days later. Further investigation revealed anterior mediastinal mass. He quickly deteriorated afterwards and developed pulmonary hemorrhage leading to respiratory failure and died on the following day. Result of the post-mortem tumor biopsy was consistent with mediastinal germinoma.
Conclusion: MAHS should be considered in HLH patients who do not respond well or develop recurrence after the appropriate HLH-immunochemotherapy. HLH associated with mediastinal germinoma is rare and fatal. Making diagnosis of the underlying mediastinal germinoma is complicated and challenging. Early diagnosis and prompt treatment of HLH along with the appropriate treatment of germinoma might be the important key for the treatment success.

Keywords: Germ cell tumor, hemophagocytic lymphohistiocytosis, malignancy-associated hemophagocytic syndrome, mediastinal germinoma