Tumour TIF1 mutations and loss of heterozygosity related to cancer-associated myositis

Rheumatology (United Kingdom)

Volumn 57, Issue 2, 2018, Pages 388-396

  Pinal Fernandez, Iago ^a,b,c   Ferrer Fabregas, Berta ^a   Trallero Araguas, Ernesto ^a   Balada, Eva ^a   Martínez, Maria Angeles ^d   Milisenda, Jose César ^d   Aparicio Español, Gloria ^a   Labrador Horrillo, Moises ^a   Garcia Patos, Vicente ^a,b   Grau Junyent, Josep M ^d   Selva O'Callaghan, Albert ^a,b  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^c NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^d UNIVERSITY OF BARCELONA   (Spain)

Author keywords

Autoantibodies; Dermatomyositis; Genetics; Myositis; Paraneoplastic diseases

Indexed keywords

DNA; TRANSCRIPTION FACTOR; TRANSCRIPTION INTERMEDIARY FACTOR 1; UNCLASSIFIED DRUG; TRIM33 PROTEIN, HUMAN;

ADULT; ARTICLE; CANCER TISSUE; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MYOSITIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SOMATIC MUTATION; WHOLE EXOME SEQUENCING; CASE CONTROL STUDY; GENETICS; METABOLISM; MUTATION; NEOPLASM; SKELETAL MUSCLE; SKIN;

ADULT; CASE-CONTROL STUDIES; FEMALE; HUMANS; LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; MYOSITIS; NEOPLASMS; SKIN; TRANSCRIPTION FACTORS; WHOLE EXOME SEQUENCING;

EID: 85041535918     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/kex413     Document Type: Article

References (25)

1. Dalakas MC. Inflammatory muscle diseases. N Engl J Med 2015;373:393-4
2. Trallero-Araguas E, Rodrigo-Pendas JA, Selva-O'Callaghan A et al. Usefulness of anti-p155 autoantibody for diagnosing cancer-associated dermatomyositis: a systematic review and meta-analysis. Arthritis Rheum 2012;64:523-32
3. Fujimoto M, Hamaguchi Y, Kaji K et al. Myositis-specific anti-155/140 autoantibodies target transcription intermediary factor 1 family proteins. Arthritis Rheum 2012;64:513-22
4. Hatakeyama S. TRIM proteins and cancer. Nat Rev Cancer 2011;11:792-804
5. Khetchoumian K, Teletin M, Mark M et al. TIF1δ, a novel HP1-interacting member of the transcriptional intermediary factor 1 (TIF1) family expressed by elongating spermatids. J Biol Chem 2004;279:48329-41
6. Venturini L, You J, Stadler M et al. TIF1γ, a novel member of the transcriptional intermediary factor 1 family. Oncogene 1999;18:1209-17
7. Joseph CG, Darrah E, Shah AA et al. Association of the autoimmune disease scleroderma with an immunologic response to cancer. Science 2014;343:152-7
8. Schreiber RD, Old LJ, Smyth MJ. Cancer immunoediting: integrating immunity's roles in cancer suppression and promotion. Science 2011;331:1565-70
9. Bohan A, Peter JB. Polymyositis and dermatomyositis (second of two parts). N Engl J Med 1975;292:403-7
10. Hida A, Yamashita T, Hosono Y et al. Anti-TIF1-γ antibody and cancer-associated myositis: a clinicohistopathologic study. Neurology 2016;87:299-308
11. Troyanov Y, TargoffIN, Tremblay JL et al. Novel classification of idiopathic inflammatory myopathies based on overlap syndrome features and autoantibodies: analysis of 100 French Canadian patients. Medicine 2005;84:231
12. Labrador-Horrillo M, Martinez MA, Selva-O'Callaghan A et al. Anti-TIF1γ antibodies (anti-p155) in adult patients with dermatomyositis: comparison of different diagnostic assays. Ann Rheum Dis 2012;71:993-6
13. Koboldt DC, Zhang Q, Larson DE et al. VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res 2012;22:568-76
14. Ha G, Roth A, Khattra J et al. TITAN: inference of copy number architectures in clonal cell populations from tumor whole-genome sequence data. Genome Res 2014;24:1881-93
15. Ng PC, HenikoffS. Predicting deleterious amino acid substitutions. Genome Res 2001;11:863-74
16. Adzhubei IA, Schmidt S, Peshkin L et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-9
17. Sievers F, Wilm A, Dineen D et al. Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega. Mol Syst Biol 2014;7:539
18. Moutaftsi M, Peters B, Pasquetto V et al. A consensus epitope prediction approach identifies the breadth of murine T(CD8+)-cell responses to vaccinia virus. Nat Biotechnol 2006;24:817-9
19. McClelland RA, Finlay P, Walker KJ et al. Automated quantitation of immunocytochemically localized estrogen receptors in human breast cancer. Cancer Res 1990;50:3545-50
20. Pommier RM, Gout J, Vincent DF et al. TIF1γ suppresses tumor progression by regulating mitotic checkpoints and chromosomal stability. Cancer Res 2015;75:4335-50
21. Jimenez P, Canton J, Collado A et al. Chromosome loss is the most frequent mechanism contributing to HLA haplotype loss in human tumors. Int J Cancer 1999;83:91-7
22. Gunawardena H, Wedderburn LR, North J et al. Clinical associations of autoantibodies to a p155/140 kDa doublet protein in juvenile dermatomyositis. Rheumatology 2007;47:324-8
23. William J, Euler C, Christensen S, Shlomchik MJ. Evolution of autoantibody responses via somatic hypermutation outside of germinal centers. Science 2002;297:2066-70
24. Casciola-Rosen L, Nagaraju K, Plotz P et al. Enhanced autoantigen expression in regenerating muscle cells in idiopathic inflammatory myopathy. J Exp Med 2005;201:591-601
25. TargoffIN, Mamyrova G, Trieu EP et al. A novel autoantibody to a 155-kd protein is associated with dermatomyositis. Arthritis Rheum 2006;54:3682-9