KSHV-associated extracavitary primary effusion lymphoma in an HIV seronegative patient: a case report and review of the literature

Primary effusion lymphoma (PEL) is a rare type of non-Hodgkin's lymphoma presenting as a lymphomatous effusion and absence of a solid tumor mass. Extracavitary PEL (EC-PEL) is a subtype of PEL with the absence of an effusion but presence of solid tumor. PEL and EC-PEL share the same histopathologic and immunophenotypic features. Kaposi sarcoma-associated herpesvirus (KSHV) positivity is seen universally in these malignancies and is a requisite for diagnosis. Most cases are seen to occur in HIV positive individuals. We present a unique case of a 21-year-old male who presented with ongoing chest pain and right hip pain found to have an extensive lytic lesion of the right iliac bone, a paratracheal mass and a large pelvic mass. All the involved sites were FDG (F-18 fluorodeoxyglucose)-avid on PET-CT scan. The patient was seronegative for HIV with no risk factors for immunosuppression. A biopsy of the pelvic mass and bone marrow showed large atypical cells with irregular multi-lobulated nuclei, prominent nucleoli, and abundant amphophilic cytoplasm. The cells were positive for MUM1, in situ hybridization for EBV-encoded RNA (EBER), and KSHV, while negative for B-cell and T-cell markers. The patient was treated with six cycles of DA-EPOCH with a follow up PET scan showing a decrease in size of the masses and bone lesion and conversion to non-FDG-avid status. To the best of our knowledge, our case is the first in published English literature with bone involvement with EC-PEL regardless of HIV status. We review the reported cases of EC-PEL including their presentation, diagnostic features, treatment and outcomes.