Promoter methylation of TGFβ receptor I and mutation of TGFβ receptor II are frequent events in MSI sporadic gastric carcinomas

Journal of Pathology

Volumn 200, Issue 1, 2003, Pages 32-38

  Pinto, Mafalda ^a   Oliveira, Carla ^a   Cirnes, Luis ^a   Machado, José Carlos ^a,b   Ramires, Maria ^a,c   Nogueira, Ana ^a,d   Carneiro, Fátima ^a,b,c   Seruca, Raquel ^a,b  

^a UNIVERSITY OF PORTO   (Portugal)

^b University of Porto   (Portugal)

^c HOSPITAL DE SÃO JOÃO   (Portugal)

^d FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

Author keywords

Gastric cancer; Methylation; MSI; Mutation; Stomach; Target gene; TGF ; TGF receptor; TGF receptor I; TGF receptor II

Indexed keywords

KI 67 ANTIGEN; TRANSFORMING GROWTH FACTOR BETA RECEPTOR; TRANSFORMING GROWTH FACTOR BETA1; TRANSFORMING GROWTH FACTOR BETA2; ACTIVIN RECEPTOR 1; DNA; MICROSATELLITE DNA; TGF BETA TYPE I RECEPTOR; TGF-BETA TYPE I RECEPTOR; TRANSFORMING GROWTH FACTOR BETA TYPE II RECEPTOR; TRANSFORMING GROWTH FACTOR-BETA TYPE II RECEPTOR; TUMOR PROTEIN;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CPG ISLAND; DNA METHYLATION; FEMALE; GENE FREQUENCY; GENE MUTATION; GROWTH INHIBITION; HUMAN; MALE; MICROSATELLITE INSTABILITY; PATHOLOGY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; STOMACH CARCINOMA; TUMOR GROWTH; TUMOR VOLUME; GENETICS; METHODOLOGY; MUTATION; PHENOTYPE; STOMACH TUMOR;

ACTIVIN RECEPTORS, TYPE I; CPG ISLANDS; DNA METHYLATION; DNA, NEOPLASM; HUMANS; MICROSATELLITE REPEATS; MUTATION; NEOPLASM PROTEINS; PHENOTYPE; POLYMERASE CHAIN REACTION; PROMOTER REGIONS (GENETICS); RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; STOMACH NEOPLASMS;

EID: 0037987704     PISSN: 00223417     EISSN: None     Source Type: Journal    
DOI: 10.1002/path.1327     Document Type: Article

References (36)

1. Massagué J, Chen YG. Controlling TGF-β signalling. Genes Dev 2000; 14: 627-644.
2. Amendt C, Schirmacher P, Weber H, Blessing M. Expression of a dominant negative type II TGF-beta receptor in mouse skin results in an increase in carcinoma incidence and an acceleration of carcinoma development. Oncogene 1998; 17: 25-34.
3. Goumans MJ, Mummery C. Functional analysis of the TGFβ receptor/Smad pathway through gene ablation in mice. Review. Int J Dev Biol 2000; 44: 253-265.
4. Attisano L, Wrana JL, Lopez-Casillas F, Massague J. TGF-beta receptors and actions. Biochim Biophys Acta 1994; 1222: 71-80.
5. Derynck R. TGF-beta-receptor-mediated signalling. Trends Biochem Sci 1994; 19: 548-553.
6. Chang J, Park K, Bang YJ, Kim WS, Kim D, Kim SJ. Expression of transforming growth factor beta type II receptor reduces tumourigenicity in human gastric cancer cells. Cancer Res 1997; 57: 2856-2859.
7. Kang SH, Bang YJ, Im YH, et al. Transcriptional repression of the transforming growth factor-beta type I receptor gene by DNA methylation results in the development of TGF-beta resistance in human gastric cancer. Oncogene 1999; 18: 7280-7286.
8. Ke Y, Hagiwara K, Su X. Mutation analysis of transforming growth factor-beta type II receptor gene in human gastric cancer tissues. Chung Hua Chung Liu Tsa Chih 1997; 19: 25-27.
9. Wrana JL, Attisano L, Carcamo J, et al. TGF beta signals through a heteromeric protein kinase receptor complex. Cell 1992; 71: 1003-1014.
10. Brand T, MacLellan WR, Schneider MD. A dominant-negative receptor for the type beta transforming growth factors created by deletion of the kinase domain. J Biol Chem 1993; 268: 11 500-11 503.
11. Carcamo J, Zentella A, Massague J. Disruption of transforming growth factor beta signalling by a mutation that prevents transphosphorylation within the receptor complex. Mol Cell Biol 1995; 15: 1573-1581.
12. Park K, Kim SJ, Bang YJ, et al. Genetic changes in the transforming growth factor beta (TGF-beta) type II receptor gene in human gastric cancer cells: correlation with sensitivity to growth inhibition by TGF-beta. Proc Natl Acad Sci U S A 1994; 91: 8772-8776.
13. Markowitz S, Wang J, Myeroff L, et al. Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science 1995; 268: 1336-1338.
14. Myeroff LL, Parsons R, Kim SJ, et al. A transforming growth factor beta receptor type II gene mutation common in colon and gastric but rare in endometrial cancers with microsatellite instability. Cancer Res 1995; 55: 5545-5547.
15. Parsons R, Myeroff LL, Liu B, et al. Microsatellite instability and mutations of the transforming growth factor beta type II receptor gene in colorectal cancer. Cancer Res 1995; 55: 5548-5550.
16. Oliveira C, Seruca R, Seixas M, Sobrinho Simões M. The clinicopathological features of gastric carcinomas with microsatellite instability may be mediated by mutations of different target genes - a study of the TGFβ RII, IGFII R and BAX genes. Am J Pathol 1998; 153: 1211-1219.
17. Nakashima R, Song H, Enomoto T, et al. Genetic alterations in the transforming growth factor receptor complex in sporadic endometrial carcinoma. Gene Expr 1999; 8: 341-352.
18. Chen T, Carter D, Garrigue-Antar L, Reiss M. Transforming growth factor beta type I receptor kinase mutant associated with metastatic breast cancer. Cancer Res 1998; 58: 4805-4810.
19. D'Abronzo FH, Swearingen B, Klibanski A, Alexander JM. Mutational analysis of activin/transforming growth factor-beta type I and type II receptor kinases in human pituitary tumours. J Clin Endocrinol Metab 1999; 84: 1716-1721.
20. Chen T, Yan W, Wells RG, et al. Novel inactivating mutations of transforming growth factor-beta type I receptor gene in head-and-neck cancer metastases. Int J Cancer 2001; 93: 653-661.
21. Chen T, de Vries EG, Hollema H, et al. Structural alterations of transforming growth factor-beta receptor genes in human cervical carcinoma. Int J Cancer 1999; 82: 43-51.
22. Wang D, Kanuma T, Mizunuma H, et al. Analysis of specific gene mutations in the transforming growth factor-beta signal transduction pathway in human ovarian cancer. Cancer Res 2000; 60: 4507-4512.
23. Chen T, Triplett BD, Hurst B, et al. Transforming growth factor-β receptor type I gene is frequently mutated in ovarian carcinomas. Cancer Res 2001; 61: 4679-4682.
24. Hougaard S, Norgaard P, Abrahamsen N, Moses HL, Spang-Thomsen M, Skovgaard Poulsen H. Inactivation of the transforming growth factor beta type II receptor in human small cell lung cancer cell lines. Br J Cancer 1999; 79: 1005-1011.
25. Eads CA, Lord RV, Wickramasinghe K, et al. Epigenetic patterns in the progression of esophageal adenocarcinoma. Cancer Res 2001; 61: 3410-3418.
26. Li J, Bench AJ, Huntly BJ, Green AR. Mutation and methylation analysis of the transforming growth factor beta receptor II gene in polycythaemia vera. Br J Haematol 2001; 115: 872-880.
27. Laurén P. The two histological main types of gastric carcinoma: diffuse and so-called intestinal-type carcinoma. An attempt at a histo-clinical classification. Acta Pathol Microbiol Scand 1965; 64: 31-49.
28. Holm R, Sobrinho-Simões M, Nesland JM, Gould VE, Johannessen V. Medullary carcinoma of the thyroid gland. An immunohistochemical study. Ultrastruct Pathol 1985; 8: 25-41.
29. Anbazhagan R, Bornman DM, Johnston JC, Westra WH, Gabrielson E. The S387Y mutations of the transforming growth factor-beta receptor type I gene are uncommon in metastases of breast cancer and other common types of adenocarcinomas. Cancer Res 1999; 59: 3363-3364.
30. Knobloch TJ, Lynch MA, Song H, et al. Analysis of TGF-beta type I receptor for mutations and polymorphisms in head and neck cancers. Mutat Res 2001; 479: 131-139.
31. van Tilborg AA, de Vries A, Zwarthoff EC. The chromosome 9q genes TGFBR1, TSC1, and ZNF189 are rarely mutated in bladder cancer. J Pathol 2001; 194: 76-80.
32. Jonson T, Albrechtsson E, Axelson J, et al. Altered expression of TGFβ receptors and mitogenic effects of TGFβ in pancreatic carcinomas. Int J Oncol 2001; 19: 71-81.
33. Yamamoto H, Gil J, Schwartz S Jr, Perucho M. Frameshift mutations in Fas, Apaf-1, and Bcl-10 in gastro-intestinal cancer of the microsatellite mutator phenotype. Cell Death Dif 2000; 7: 238-239.
34. Boland CR, Thibodeau SN, Hamilton SR, et al. A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998; 58: 5248-5257.
35. Shin KH, Park YJ, Park JG. Mutational analysis of the transforming growth factor beta receptor type II gene in hereditary nonpolyposis colorectal cancer and early-onset colorectal cancer patients. Clin Cancer Res 2000; 6: 536-540.
36. de Caestecker MP, Piek E, Roberts AB. Role of transforming growth factor-beta signalling in cancer. J Natl Cancer Inst 2000; 92: 1388-1402.