Published online 16 July 2009
Haematologica, Vol 94, Issue 8, 1170-1174 doi:10.3324/haematol.2009.007260
Copyright © 2009 by Ferrata Storti Foundation
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Malignant Lymphomas

Mutational analysis of TP53, PTEN, PIK3CA and CTNNB1/β-catenin genes in human herpesvirus 8-associated primary effusion lymphoma

Emmanuelle Boulanger1, Agnès Marchio2, Saw-See Hong3, Pascal Pineau2

1 Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Paris;
2 Nuclear Organization and Oncogenesis Unit, INSERM U579, Institut Pasteur, Paris and
3 Laboratory of Virology and Vectorology, CNRS FRE 3011, Faculté de Médecine RTH Laënnec, Université Lyon I, Lyon, France

Correspondence: Emmanuelle Boulanger, Laboratory of Thymus research, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Ave, Brasil 4365, Manguinhos, 21045-900, Rio de Janeiro, RJ, Brazil. E-mail:emmaboul{at}ioc.fiocruz.br.

Human herpesvirus 8 (HHV-8)-associated primary effusion lymphoma is a rare non-Hodgkin’s lymphoma often associated with Epstein-Barr virus (EBV) infection. Mutations in TP53, PTEN, PIK3CA, CTNNB1/β-catenin genes and deletion of CDKN2A-ARF (p14ARF-p16NK4a I ) locus were investigated in sixteen primary primary effusion lymphoma tumors and seven primary effusion lymphoma cell lines using PCR and sequencing. TP53 mutations were detected in one primary primary effusion lymphoma tumor (6.2%) and two primary effusion lymphoma cell lines (28.6%). BC-3 and BCP-1 cell lines showed PTEN gene mutations, associated with a loss of PTEN protein expression in both cases. No mutations were detected in PIK3CA and CTNNB1/β-catenin hotspot sequences. Only BC-3 contained a homozygous deletion of CDKN2A-ARF locus. Although detected at a higher frequency in primary effusion lymphoma cell lines than in primary primary effusion lymphoma tumors, TP53 and/or PTEN mutations, as well as deletion of CDKN2A-ARF locus are uncommon in primary effusion lymphoma, and are found to correlate with the EBV-negative status of primary effusion lymphoma tumors.

Key words: human herpesvirus 8, non-Hodgkin’s lymphoma, primary effusion lymphoma, tumor suppressor gene, mutations.