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Blood, 1 June 2005, Vol. 105, No. 11, pp. 4424-4428. Prepublished online as a Blood First Edition Paper on February 22, 2005; DOI 10.1182/blood-2004-04-1477. This Article Full Text Full Text (PDF) All Versions of this Article: 2004-04-1477v1 105/11/4424    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Clementi, R. Articles by Roncarolo, M. G. Search for Related Content PubMed PubMed Citation Articles by Clementi, R. Articles by Roncarolo, M. G. Related Collections Immunobiology Neoplasia Clinical Trials and Observations Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  IMMUNOBIOLOGY A proportion of patients with lymphoma may harbor mutations of the perforin gene Rita Clementi, Franco Locatelli, Loïc Dupré, Alberto Garaventa, Lorenzo Emmi, Marco Bregni, Graziella Cefalo, Antonia Moretta, Cesare Danesino, Margherita Comis, Andrea Pession, Ugo Ramenghi, Rita Maccario, Maurizio Aricò, and Maria Grazia Roncarolo From Medical Genetics, University of Pavia and Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy; Pediatric Haematology-Oncology IRCCS Policlinico San Matteo, Pavia, Italy; Hospital San Raffaele (HSR)-Telethon Institute for Gene Therapy (TIGET), San Raffaele Telethon Institute for Gene Therapy, Milan, Italy; Unit of Haematology and Oncology, G. Gaslini Institute, Genova, Italy; Department of Internal Medicine University of Florence, Florence, Italy; Division of Haematology and Bone Marrow Transplantation Unit, San Raffaele Institute, Milano, Italy; Department of Pediatrics, National Institute for Cancer Study and Care, Milan, Italy; Department of Hematology, Azienda Ospedaliera "Bianchi-Malacrino-Morelli," Reggio Calabria, Italy; Department of Pediatrics, Ospedale Sant'Orsola, University of Bologna, Bologna, Italy; Department of Pediatrics, Ospedale Regina Margherita, University of Turin, Turin, Italy; and Pediatric Hematology-Oncology Ospedale dei Bambini "G. Di Cristina," Palermo, Italy. Perforin mutations have been demonstrated in a proportion of patients diagnosed with the familial form of hemophagocytic lymphohistiocytosis (HLH). In the present study, we evaluated whether some patients with lymphoma sharing clinical characteristics with HLH might harbor mutations of the perforin gene. We analyzed 29 patients and found that 4 patients, who developed either Hodgkin or non-Hodgkin lymphoma, had biallelic mutations of the perforin gene. One of these 4 patients, a 19-year-old female with T-cell lymphoma, had a brother carrying the same mutations who developed HLH. In 2 of the 4 patients with biallelic mutations of the perforin gene, we evaluated perforin expression by flow cytometry and natural killer (NK) activity and both were found to be absent. Moreover, we documented the presence of monoallelic mutations of the perforin gene in 4 more patients. One of these 4 latter patients also carried a mutation of the Fas gene. These data indicate that perforin deficiency, either alone or in combination with other mutations of genes involved in lymphocyte survival or functional activity, may be present in patients with lymphoma. These findings suggest that perforin also plays a key role in the mechanisms of immune surveillance that prevent tumor growth and/or development. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: Immune surveillance of lymphoma in humans? Mark J. Smyth, Ilia Voskoboinik, and Joseph A. Trapani Blood 2005 105: 4159-4160. [Full Text] [PDF] This article has been cited by other articles: R.-L. Chen, Y.-H. Hsu, I. Ueda, S. Imashuku, K. Takeuchi, B. P.-h. Tu, and S.-S. Chuang Cytophagic histiocytic panniculitis with fatal haemophagocytic lymphohistiocytosis in a paediatric patient with perforin gene mutation J. Clin. Pathol., October 1, 2007; 60(10): 1168 - 1169. [Full Text] [PDF] I. Voskoboinik, V. R. Sutton, A. Ciccone, C. M. House, J. Chia, P. K. Darcy, H. Yagita, and J. A. Trapani Perforin activity and immune homeostasis: the common A91V polymorphism in perforin results in both presynaptic and postsynaptic defects in function Blood, August 15, 2007; 110(4): 1184 - 1190. [Abstract] [Full Text] [PDF] R. Clementi, A. Chiocchetti, G. Cappellano, E. Cerutti, M. Ferretti, E. Orilieri, I. Dianzani, M. Ferrarini, M. Bregni, C. Danesino, et al. Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function Blood, November 1, 2006; 108(9): 3079 - 3084. [Abstract] [Full Text] [PDF] E Rudd, K Goransdotter Ericson, C Zheng, Z Uysal, A Ozkan, A Gurgey, B Fadeel, M Nordenskjold, and J-I Henter Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies. J. Med. Genet., April 1, 2006; 43(4): e14 - e14. [Abstract] [Full Text] [PDF] A. Anichini, R. Mortarini, L. Romagnoli, P. Baldassari, A. Cabras, C. Carlo-Stella, A. M. Gianni, and M. Di Nicola Skewed T-cell differentiation in patients with indolent non-Hodgkin lymphoma reversed by ex vivo T-cell culture with {gamma}c cytokines Blood, January 15, 2006; 107(2): 602 - 609. [Abstract] [Full Text] [PDF]

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