Human herpesvirus type 8-associated primary lymphomatous effusion in an elderly HIV-negative patient: clinical and molecular characterization.
Primary lymphomatous effusions are defined as lymphomas presenting in the serous body cavities in the absence of clinically identifiable tumor masses. Recently, a peculiar type of primary lymphomatous effusion associated with tumor clone infection by human herpesvirus type 8 (HHV-8) and preferentially arising in HIV-positive patients has been described and termed as primary effusion lymphoma (PEL). This report describes a case of PEL which has developed in a HIV-negative, 92-year-old man with longstanding Mediterranean Kaposi's sarcoma, a disease also associated with HHV-8 infection. The patient presented with pleural and ascitic effusions in the absence of solid masses within the lungs, mediastinum, thoracic wall or abdominal cavity. The effusions consisted of malignant lymphocytes with morphologic features bridging immunoblastic and anaplastic cells. Immunophenotypic studies revealed that the lymphoma population expressed an antigenic profile consistent with PEL, i.e. the absence of common B- and T-cell markers (non-B, non-T phenotype) coupled to CD138 positivity. Molecular analysis demonstrated infection of the tumor clone by HHV-8 as well as monoclonally rearranged immunoglobulin genes, consistent with a B-cell histogenesis of the lymphoma. In addition, this PEL case harbored PAX-5 gene mutations, which have been recently demonstrated as a key feature of the proto-oncogene hypermutation process involved in the pathogenesis of some lymphoma types. Following two courses of etoposide and prednisone, a partial remission was achieved. The patient died of liver failure 3 months after the diagnosis of PEL. Overall, this case report illustrates the need for an integrated diagnostic approach based on clinical features, morphology, immunophenotype, and molecular genetics to primary lymphomatous effusions.
Buonaiuto
Daniela
D
Centro per lo Studio e la Cura delle Malattie del Sangue, Clinica Medica Generale, Università degli Studi del Piemonte Orientale Amedeo Avogadro. dbuonaiuto@yahoo.it
Rossi
Davide
D
Guidetti
Francesca
F
Vivenza
Daniela
D
Berra
Eva
E
Deambrogi
Clara
C
Ariatti
Cristiano
C
Franceschetti
Silvia
S
Conconi
Annarita
A
Ronco
Marco
M
Valente
Guido
G
Colombi
Sandra
S
D000368:Aged; D000369:Aged, 80 and over; D018023:HIV Seronegativity; D006566:Herpesviridae Infections / Q000276:immunology*; D019288:Herpesvirus 8, Human; D006801:Humans; D008228:Lymphoma, Non-Hodgkin / Q000276:immunology* / Q000821:virology*; D008297:Male; D000090063:Proto-Oncogene Mas