Abstract

A 55-year-old Caucasian male with cryptogenic cirrhosis of the liver and refractory ascites was referred for consideration of a liver transplant. There was no previous history of opportunistic infections and serological screening for human immunodeficiency virus (HIV), hepatitis B and hepatitis C was negative. Immunoglobulin levels were normal and autoantibodies and tumour markers were not detected. A computed tomography (CT) scan showed hepatomegaly with irregular hepatic architecture, established varices and marked portal enteropathy with splenomegaly and ascites but no nodal enlargement. Ascitic fluid cytology showed abundant atypical cells with hyperchromatic nuclei and many apoptotic cells (top left), macrophages and mesothelial cells. Immunophenotyping was undertaken on ascitic and pleural fluid and cells typed as mature T cells with no excess of blasts or clonally-restricted B cells. These cells expressed CD45, HLA-DR, CD38 and CD7 but no other B, T or myeloid markers. Immunohistochemistry of these cells failed because of background staining and poor preservation of cellular architecture. DNA was extracted from the ascitic fluid and gene rearrangement studies by multiplex polymerase chain reaction confirmed a monoclonal IGH@ rearrangement with a polyclonal T-cell receptor pattern. Peritoneal biopsy proved inconclusive but immunohistochemical analysis of a subsequent ascitic fluid sample showed pleomorphic lymphoid cells with plasmacytoid features, positive for CD38 (top right), CD30, epithelial membrane antigen (EMA) and MUM1/IRF4. There was strong nuclear expression of human herpesvirus 8 (HHV8) latent protein (LANA; bottom left) and Epstein–Barr virus-encoded RNA (EBER; bottom right) by in situ hybridization. A diagnosis of primary effusion lymphoma (PEL) was made. PEL is a rare large B-cell neoplasm and, in the absence of immune suppression, is particularly unusual. Confirmation of B-cell clonality by immunophenotyping may be difficult as PEL usually lacks cytoplasmic and surface immunoglobulin. CD45, HLA-DR, CD30, CD38, Vs38c, CD138 and EMA are often demonstrable. Pan-B markers may not be expressed and there may be aberrant expression of T-cell markers, making it difficult to assign lineage. Immunoglobulin genes are usually clonally rearranged, as in this case. The nuclei of the neoplastic cells are universally positive for HHV8 LANA and this is useful in establishing a diagnosis. If the cytological features are poorly preserved, histochemical staining may fail. The patient was treated with dose-attenuated cyclophosphamide, doxorubicin, vincristine and prednisolone (CHOP) chemotherapy, but had a poor response and died within 6 months of presentation. Clinical outcomes remain poor for this disease although there are occasional reports of a response to immunomodulatory agents with chemotherapy.

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