Recurrent mutations of the STAT6 DNA binding domain in primary mediastinal B-cell lymphoma

Blood

Volumn 114, Issue 6, 2009, Pages 1236-1242

  Ritz, Olga ^a   Guiter, Chrystelle ^b,c   Castellano, Flavia ^b,c   Dorsch, Karola ^a   Melzner, Julia ^a   Jais, Jean Philippe ^d,e   Dubois, Gwendoline ^b   Gaulard, Philippe ^b,c   Möller, Peter ^a   Leroy, Karen ^b,c  

^a UNIVERSITY HOSPITAL ULM   (Germany)

^b HENRI MONDOR HOSPITAL   (France)

^c FACULTÉ DE MÉDECINE   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

STAT6 PROTEIN; STAT6 PROTEIN, HUMAN; TUMOR PROTEIN;

ADOLESCENT; ADULT; ARTICLE; B CELL LYMPHOMA; CONTROLLED STUDY; DNA BINDING; EXON; FEMALE; HETEROZYGOTE; HODGKIN DISEASE; HUMAN; HUMAN CELL; HUMAN TISSUE; LARGE CELL LYMPHOMA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; SOMATIC HYPERMUTATION; CLINICAL TRIAL; GENE EXPRESSION REGULATION; GENETICS; MEDIASTINUM TUMOR; METABOLISM; MULTICENTER STUDY; MUTATION; PROTEIN TERTIARY STRUCTURE; SIGNAL TRANSDUCTION; TUMOR CELL LINE;

CELL LINE, TUMOR; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; LYMPHOMA, LARGE B-CELL, DIFFUSE; MALE; MEDIASTINAL NEOPLASMS; MUTATION; NEOPLASM PROTEINS; PROTEIN STRUCTURE, TERTIARY; SIGNAL TRANSDUCTION; STAT6 TRANSCRIPTION FACTOR;

EID: 69849087246     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2009-03-209759     Document Type: Article

References (35)

1. Swerdlow SH, Campo E, Harris NL. WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues. 4th Ed. Lyon, France: International Agency for Research on Cancer; 2008.
2. Barth TF, Leithauser F, Joos S, Bentz M, Moller P. Mediastinal (thymic) large B-cell lymphoma: where do we stand? Lancet Oncol. 2002;3:229-234. (Pubitemid 34436659)
3. Guiter C, Dusanter-Fourt I, Copie-Bergman C, et al. Constitutive STAT6 activation in primary mediastinal large B-cell lymphoma. Blood. 2004;104:543-549. (Pubitemid 38900039)
4. Mottok A, Renne C, Willenbrock K, Hansmann ML, Brauninger A. Somatic hypermutation of SOCS1 in lymphocyte-predominant Hodgkin lymphoma is accompanied by high JAK2 expression and activation of STAT6. Blood. 2007;110:3387-3390. (Pubitemid 350106334)
5. Skinnider BF, Elia AJ, Gascoyne RD, et al. Signal transducer and activator of transcription 6 is frequently activated in Hodgkin and Reed-Sternberg cells of Hodgkin lymphoma. Blood. 2002;99:618-626.
6. Ritz O, Guiter C, Dorsch K, et al. STAT6 activity is regulated by SOCS-1 and modulates BCL-XL expression in primary mediastinal B-cell lymphoma. Leukemia. 2008;22:2106-2110.
7. Bentz M, Barth TF, Bruderlein S, et al. Gain of chromosome arm 9p is characteristic of primary mediastinal B-cell lymphoma (MBL): comprehensive molecular cytogenetic analysis and presentation of a novel MBL cell line. Genes Chromosomes Cancer. 2001;30:393-401. (Pubitemid 32216330)
8. Melzner I, Bucur AJ, Bruderlein S, et al. Biallelic mutation of SOCS-1 impairs JAK2 degradation and sustains phospho-JAK2 action in the MedB-1 mediastinal lymphoma line. Blood. 2005;105:2535-2542. (Pubitemid 40387056)
9. Joos S, Granzow M, Holtgreve-Grez H, et al. Hodgkin's lymphoma cell lines are characterized by frequent aberrations on chromosomes 2p and 9p including REL and JAK2. Int J Cancer. 2003;103:489-495. (Pubitemid 36020223)
10. Weniger MA, Melzner I, Menz CK, et al. Mutations of the tumor suppressor gene SOCS-1 in classical Hodgkin lymphoma are frequent and associated with nuclear phospho-STAT5 accumulation. Oncogene. 2006;25:2679-2684.
11. Kapp U, Yeh WC, Patterson B, et al. Interleukin 13 is secreted by and stimulates the growth of Hodgkin and Reed-Sternberg cells. J Exp Med. 1999;189:1939-1946. (Pubitemid 29295892)
12. Skinnider BF, Elia AJ, Gascoyne RD, et al. Interleukin 13 and interleukin 13 receptor are frequently expressed by Hodgkin and Reed-Sternberg cells of Hodgkin lymphoma. Blood. 2001;97:250-255.
13. Daniel C, Salvekar A, Schindler U. A gain-of-function mutation in STAT6. J Biol Chem. 2000;275:14255-14259.
14. Bruns HA, Schindler U, Kaplan MH. Expression of a constitutively active Stat6 in vivo alters lymphocyte homeostasis with distinct effects in T and B cells. J Immunol. 2003;170:3478-3487. (Pubitemid 36359213)
15. Kaplan MH, Sehra S, Chang HC, O'Malley JT, Mathur AN, Bruns HA. Constitutively active STAT6 predisposes toward a lymphoproliferative disorder. Blood. 2007;110:4367-4369.
16. Copie-Bergman C, Boulland ML, Dehoulle C, et al. Interleukin 4-induced gene 1 is activated in primary mediastinal large B-cell lymphoma. Blood. 2003;101:2756-2761. (Pubitemid 36857640)
17. Joos S, Otano-Joos MI, Ziegler S, et al. Primary mediastinal (thymic) B-cell lymphoma is characterized by gains of chromosomal material including 9p and amplification of the REL gene. Blood. 1996;87:1571-1578. (Pubitemid 26056923)
18. Paulli M, Strater J, Gianelli U, et al. Mediastinal B-cell lymphoma: a study of its histomorphologic spectrum based on 109 cases. Hum Pathol. 1999;30:178-187. (Pubitemid 29086949)
19. Rosenwald A, Wright G, Leroy K, et al. Molecular diagnosis of primary mediastinal B cell lymphoma identifies a clinically favorable subgroup of diffuse large B cell lymphoma related to Hodgkin lymphoma. J Exp Med. 2003;198:851-862. (Pubitemid 37152922)
20. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-DeltaDelta C(T)) Method. Methods. 2001;25:402-408. (Pubitemid 34164012)
21. Moldenhauer G, Popov SW, Wotschke B, et al. AID expression identifies interfollicular large B cells as putative precursors of mature B-cell malignancies. Blood. 2006;107:2470-2473. (Pubitemid 43345569)
22. Moller P, Bruderlein S, Strater J, et al. MedB-1, a human tumor cell line derived from a primary mediastinal large B-cell lymphoma. Int J Cancer. 2001;92:348-353. (Pubitemid 32249710)
23. Savage KJ, Monti S, Kutok JL, et al. The molecular signature of mediastinal large B-cell lymphoma differs from that of other diffuse large B-cell lymphomas and shares features with classical Hodgkin lymphoma. Blood. 2003;102:3871-3879. (Pubitemid 37486965)
24. Feys T, Poppe B, De Preter K, et al. A detailed inventory of DNA copy number alterations in four commonly used Hodgkin's lymphoma cell lines. Haematologica. 2007;92:913-920. (Pubitemid 350144238)
25. Lenz G, Wright GW, Emre NC, et al. Molecular subtypes of diffuse large B-cell lymphoma arise by distinct genetic pathways. Proc Natl Acad Sci U S A. 2008;105:13520-13525.
26. Hebenstreit D, Wirnsberger G, Horejs-Hoeck J, Duschl A. Signaling mechanisms, interaction partners, and target genes of STAT6. Cytokine Growth Factor Rev. 2006;17:173-188. (Pubitemid 43816893)
27. Constantinescu SN, Girardot M, Pecquet C. Mining for JAK-STAT mutations in cancer. Trends Biochem Sci. 2008;33:122-131.
28. Trieu Y, Wen XY, Skinnider BF, et al. Soluble interleukin-13Rα2 decoy receptor inhibits Hodgkin's lymphoma growth in vitro and in vivo. Cancer Res. 2004;64:3271-3275. (Pubitemid 38581432)
29. Rossi D, Cerri M, Capello D, et al. Aberrant somatic hypermutation in primary mediastinal large B-cell lymphoma. Leukemia. 2005;19:2363-2366. (Pubitemid 41741643)
30. Odegard VH, Schatz DG. Targeting of somatic hypermutation. Nat Rev Immunol. 2006;6:573-583.
31. Malpeli G, Barbi S, Moore PS, et al. Primary mediastinal B-cell lymphoma: hypermutation of the BCL6 gene targets motifs different from those in diffuse large B-cell and follicular lymphomas. Haematologica. 2004;89:1091-1099. (Pubitemid 39295480)
32. Minegishi Y, Saito M, Tsuchiya S, et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007;448:1058-1062. (Pubitemid 47345590)
33. Chapgier A, Boisson-Dupuis S, Jouanguy E, et al. Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS Genet. 2006;2:e131. (Pubitemid 44298494)
34. Chen X, Vinkemeier U, Zhao Y, Jeruzalmi D, Darnell JE Jr, Kuriyan J. Crystal structure of a tyrosine phosphorylated STAT-1 dimer bound to DNA. Cell. 1998;93:827-839. (Pubitemid 28257588)
35. Becker S, Groner B, Muller CW. Three-dimensional structure of the Stat3β homodimer bound to DNA. Nature. 1998;394:145-151. (Pubitemid 28325960)