Development of classical Hodgkin's lymphoma in an adult with biallelic STXBP2 mutations

Haematologica

Volumn 98, Issue 5, 2013, Pages 760-764

  Machaczka, Maciej ^a   Klimkowska, Monika ^a   Chiang, Samuel C C ^a   Meeths, Marie ^a   Müller, Martha Lena ^a   Gustafsson, Britt ^a   Henter, Jan Inge ^a   Bryceson, Yenan T ^a,b  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b UNIVERSITY OF BERGEN   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

BLEOMYCIN; CD15 ANTIGEN; CD30 ANTIGEN; DACARBAZINE; DOXORUBICIN; KI 67 ANTIGEN; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 1; MUNC18 PROTEIN; PERFORIN; TUMOR NECROSIS FACTOR ALPHA; VINBLASTINE; STXBP2 PROTEIN, HUMAN;

ARTICLE; CLASSICAL HODGKIN LYMPHOMA; CONTROLLED STUDY; CYTOTOXIC T LYMPHOCYTE; CYTOTOXICITY; DISEASE ASSOCIATION; EPSTEIN BARR VIRUS; EXOCYTOSIS; HEMATOLOGIC MALIGNANCY; HEMOPHAGOCYTIC SYNDROME; HUMAN; IMMUNOHISTOCHEMISTRY; IMMUNOSURVEILLANCE; PERIPHERAL BLOOD MONONUCLEAR CELL; POLYACRYLAMIDE GEL ELECTROPHORESIS; PROTEIN EXPRESSION; TUMOR ASSOCIATED LEUKOCYTE; WESTERN BLOTTING; ADOLESCENT; ALLELE; CASE REPORT; CELL TRANSFORMATION; FEMALE; GENE EXPRESSION; GENETICS; HODGKIN DISEASE; METABOLISM; MULTIMODAL IMAGING; MUTATION; PATHOLOGY; VIROLOGY; VIRUS CELL TRANSFORMATION;

ADOLESCENT; ALLELES; CELL TRANSFORMATION, NEOPLASTIC; CELL TRANSFORMATION, VIRAL; FEMALE; GENE EXPRESSION; HODGKIN DISEASE; HUMANS; LYMPHOCYTES, TUMOR-INFILTRATING; MULTIMODAL IMAGING; MUNC18 PROTEINS; MUTATION; T-LYMPHOCYTES, CYTOTOXIC;

EID: 84877057853     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2012.073098     Document Type: Article

References (25)

1. Vesely MD, Kershaw MH, Schreiber RD, Smyth MJ. Natural Innate and Adaptive Immunity to Cancer. Annu Rev Immunol. 2011;29:235-71.
2. Smyth MJ, Thia KY, Street SE, MacGregor D, Godfrey DI, Trapani JA. Perforin-mediated cytotoxicity is critical for surveillance of spontaneous lymphoma. J Exp Med. 2000;192(5):755-60.
3. Clementi R, Locatelli F, Dupre L, Garaventa A, Emmi L, Bregni M, et al. A proportion of patients with lymphoma may harbor mutations of the perforin gene. Blood. 2005;105 (11):4424-8.
4. Chia J, Yeo KP, Whisstock JC, Dunstone MA, Trapani JA, Voskoboinik I. Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer. Proc Natl Acad Sci USA. 2009;106 (24):9809-14.
5. Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, et al. Perforin gene defects in familial hemo phagocytic lymphohistiocytosis. Science. 1999;286(5446):1957-9.
6. Henter JI, Horne A, Arico M, Egeler RM, Filipovich AH, Imashuku S, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48(2):124-31.
7. Janka GE. Familial and acquired hemophagocytic lymphohistiocytosis. Annu Rev Med. 2012;63:233-46.
8. Pachlopnik Schmid J, Cote M, Menager MM, Burgess A, Nehme N, Menasche G, et al. Inherited defects in lymphocyte cytotoxic activity. Immunol Rev. 2010;235(1): 10-23.
9. Bryceson YT, Rudd E, Zheng C, Edner J, Ma D, Wood SM, et al. Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. Blood. 2007;110(6):1906-15.
10. Chiang SC, Theorell J, Entesarian M, Meeths M, Mastafa M, Al-Herz W, et al. Comparison of primary human cytotoxic Tcell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production. Blood. 2013; 121(8):1345-56.
11. Meeths M, Entesarian M, Al-Herz W, Chiang SC, Wood SM, Al-Ateeqi W, et al. Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis (FHL) type 5 patients with mutations in STXBP2. Blood. 2010;116(15):2635-43.
12. Trottestam H, Horne A, Arico M, Egeler RM, Filipovich AH, Gadner H, et al. Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol. Blood. 2011;118(17):4577-84.
13. Street SE, Hayakawa Y, Zhan Y, Lew AM, MacGregor D, Jamieson AM, et al. Innate immune surveillance of spontaneous B cell lymphomas by natural killer cells and gammadelta T cells. J Exp Med. 2004;199(6): 879-84.
14. Strowig T, Brilot F, Arrey F, Bougras G, Thomas D, Muller WA, et al. Tonsilar NK cells restrict B cell transformation by the Epstein-Barr virus via IFN-gamma. PLoS Pathog. 2008;4(2):e27.
15. Strowig T, Gurer C, Ploss A, Liu YF, Arrey F, Sashihara J, et al. Priming of protective T cell responses against virus-induced tumors in mice with human immune system components. J Exp Med. 2009;206(6):1423-34.
16. Zhang B, Kracker S, Yasuda T, Casola S, Vanneman M, Homig-Holzel C, et al. Immune surveillance and therapy of lymphomas driven by Epstein-Barr virus protein LMP1 in a mouse model. Cell. 2012; 148(4):739-51.
17. Bolitho P, Street SE, Westwood JA, Edelmann W, Macgregor D, Waring P, et al. Perforin-mediated suppression of B-cell lymphoma. Proc Natl Acad Sci USA. 2009; 106(8):2723-8.
18. Schuster C, Berger A, Hoelzl MA, Putz EM, Frenzel A, Simma O, et al. The cooperating mutation or second hit determines the immunologic visibility toward MYCinduced murine lymphomas. Blood. 2011; 118(17):4635-45.
19. Koebel CM, Vermi W, Swann JB, Zerafa N, Rodig SJ, Old LJ, et al. Adaptive immunity maintains occult cancer in an equilibrium state. Nature. 2007;450(7171):903-7.
20. Imashuku S. Etoposide-related secondary acute myeloid leukemia (t-AML) in hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48(2):121-3.
21. Kutok JL, Wang F. Spectrum of Epstein-Barr virus-associated diseases. Annu Rev Pathol. 2006;1:375-404.
22. Rudd E, Goransdotter Ericson K, Zheng C, Uysal Z, Ozkan A, Gurgey A, et al. Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies. J Med Genet. 2006;43(4):e14.
23. Pagel J, Beutel K, Lehmberg K, Koch F, Maul- Pavicic A, Rohlfs AK, et al. Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lmphohistiocytosis type 5 (FHL5). Blood. 2012;119 (25):6016-24.
24. Roder JC, Haliotis T, Klein M, Korec S, Jett JR, Ortaldo J, et al. A new immunodeficiency disorder in humans involving NK cells. Nature. 1980;284(5756):553-5.
25. Meeths M, Chiang SC, Wood SM, Entesarian M, Schlums H, Bang B, et al. Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. Blood. 2011;118(22):5783-93.