Specific mutations in the β-Catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors

American Journal of Pathology

Volumn 173, Issue 5, 2008, Pages 1518-1527

  Lazar, Alexander J F ^a   Tuvin, Daniel ^a   Hajibashi, Shohrae ^a   Habeeb, Sultan ^b   Bolshakov, Svetlana ^a   Mayordomo Aranda, Empar ^b   Warneke, Carla L ^a   Lopez Terrada, Dolores ^b   Pollock, Raphael E ^a   Lev, Dina ^a  

^a UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA CATENIN; EXODEOXYRIBONUCLEASE III;

ADOLESCENT; ADULT; AGED; ARTICLE; CANCER RECURRENCE; CHILD; CODON; CONTROLLED STUDY; CTNNB1 GENE; DESMOID FIBROMATOSIS; DESMOID TUMOR; DISEASE FREE SURVIVAL; EXON; FEMALE; FIBROMATOSIS; GENE; GENE MUTATION; GENETIC CORRELATION; GENETIC LINKAGE; GENOTYPE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; KAPLAN MEIER METHOD; MALE; MUTATION RATE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECURRENCE RISK; SKIN SCAR; TISSUE MICROARRAY;

EID: 55349092046     PISSN: 00029440     EISSN: 15252191     Source Type: Journal    
DOI: 10.2353/ajpath.2008.080475     Document Type: Article

References (51)

1. Reitamo JJ, Hayry P, Nykyri E, Saxen E: The desmoid tumor. I. Incidence, sex-, age- and anatomical distribution in the Finnish population. Am J Clin Pathol 1982, 77:665-673
2. Lev D, Kotilingam D, Wei C, Ballo MT, Zagars GK, Pisters PW, Lazar AA, Patel SR, Benjamin RS, Pollock RE: Optimizing treatment of desmoid tumors. J Clin Oncol 2007, 25:1785-1791
3. Eccles DM, van der Luijt R, Breukel C, Bullman H, Bunyan D, Fisher A, Barber J, du Boulay C, Primrose J, Burn J, Fodde R: Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am J Hum Genet 1996, 59:1193-1201
4. Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie D, Finner R, Markham A, Groffen J, Boguski MS, Altschul SF, Horii A, Andoh H, Miyoshi Y, Miki Y, Nishisho I, Nakamura Y: Identification of FAP locus genes from chromosome 5q21. Science 1991, 253:661-665
5. Giardiello FM, Petersen GM, Piantadosi S, Gruber SB, Traboulsi EI, Offerhaus GJ, Muro K, Krush AJ, Booker SV, Luce MC, Laken SJ, Kinzler KW, Vogelstein B, Hamilton SR: APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis. Gut 1997, 40:521-525
6. O'Sullivan MJ, McCarthy TV, Doyle CT: Familial adenomatous polyposis: from bedside to benchside. Am J Clin Pathol 1998, 109:521-526
7. Latchford A, Volikos E, Johnson V, Rogers P, Suraweera N, Tomlinson I, Phillips R, Silver A: APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'. Hum Mol Genet 2007, 16:78-82
8. Miyaki M, Yamaguchi T, Iijima T, Takahashi K, Matsumoto H, Yasutome M, Funata N, Mori T: Difference in characteristics of APC mutations between colonic and extracolonic tumors of FAP patients: variations with phenotype. Int J Cancer 2008, 122:2491-2497
9. Carlson JW, Fletcher CD: Immunohistochemistry for b-catenin in the differential diagnosis of spindle cell lesions: analysis of a series and review of the literature. Histopathology 2007, 51:509-514
10. Montgomery E, Folpe AL: The diagnostic value of b-catenin immunohistochemistry. Adv Anat Pathol 2005, 12:350-356
11. Leibel SA, Wara WM, Hill DR, Bovill Jr EG, de Lorimier AA, Beckstead JH, Phillips TL: Desmoid tumors: local control and patterns of relapse following radiation therapy. Int J Radiat Oncol Biol Phys 1983, 9:1167-1171
12. Bataini JP, Belloir C, Mazabraud A, Pilleron JP, Cartigny A, Jaulerry C, Ghossein NA: Desmoid tumors in adults: the role of radiotherapy in their management. Am J Surg 1988, 155:754-760
13. McKinnon JG, Neifeld JP, Kay S, Parker GA, Foster WC, Lawrence Jr W: Management of desmoid tumors. Surg Gynecol Obstet 1989, 169:104-106
14. McCollough WM, Parsons JT, van der Griend R, Enneking WF, Heare T: Radiation therapy for aggressive fibromatosis. The Experience at the University of Florida. J Bone Joint Surg Am 1991, 73:5717-5725
15. Acker JC, Bossen EH, Halperin EC: The management of desmoid tumors. Int J Radiat Oncol Biol Phys 1993, 26:851-858
16. Catton CN, O'Sullivan B, Bell R, Cummings B, Fornasier V, Panzarella T: Aggressive fibromatosis: optimisation of local management with a retrospective failure analysis. Radiother Oncol 1995, 34:17-22
17. Ballo MT, Zagars GK, Pollack A, Pisters PW, Pollack RA: Desmoid tumor: prognostic factors and outcome after surgery, radiation therapy, or combined surgery and radiation therapy. J Clin Oncol 1999, 17:158-167
18. Jelinek JA, Stelzer KJ, Conrad E, Bruckner J, Kliot M, Koh W, Laramore GE: The efficacy of radiotherapy as postoperative treatment for desmoid tumors. Int J Radiat Oncol Biol Phys 2001, 50:121-125
19. Gronchi A, Casali PG, Mariani L, Lo Vullo S, Colecchia M, Lozza L, Bertulli R, Fiore M, Olmi P, Santinami M, Rosai J: Quality of surgery and outcome in extra-abdominal aggressive fibromatosis: a series of patients surgically treated at a single institution. J Clin Oncol 2003, 21:1390-1397
20. Abbas AE, Deschamps C, Cassivi SD, Nichols III FC, Allen MS, Schleck CD, Pairolero PC: Chest-wall desmoid tumors: results of surgical intervention. Ann Thorac Surg 2004, 78:1219-1223
21. Duggal A, Dickinson IC, Sommerville S, Gallie P: The management of extra-abdominal desmoid tumours. Int Orthop 2004, 28:252-256
22. Phillips SR, A'Hern R, Thomas JM: Aggressive fibromatosis of the abdominal wall, limbs and limb girdles. Br J Surg 2004, 91:1624-1629
23. Kotiligam D, Lazar AJ, Pollock RE, Lev D: Desmoid tumor: a disease opportune for molecular insights. Histol Histopathol 2008, 23:117-126
24. Gega M, Yanagi H, Yoshikawa R, Noda M, Ikeuchi H, Tsukamoto K, Oshima T, Fujiwara Y, Gondo N, Tamura K, Utsunomiya J, Hashimoto-Tamaoki T, Yamamura T: Successful chemotherapeutic modality of doxorubicin plus dacarbazine for the treatment of desmoid tumors in association with familial adenomatous polyposis. J Clin Oncol 2006, 24:102-105
25. Patel SR, Benjamin RS: Desmoid tumors respond to chemotherapy: defying the dogma in oncology. J Clin Oncol 2006, 24:11-12
26. Patel SR, Evans HL, Benjamin RS: Combination chemotherapy in adult desmoid tumors. Cancer 1993, 72:3244-3247
27. Alman BA, Li C, Pajerski ME, Diaz-Cano S, Wolfe HJ: Increased b-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors). Am J Pathol 1997, 151:329-334
28. Willert K, Jones KA: Wnt signaling: is the party in the nucleus? Genes Dev 2006, 20:1394-1404
29. Xu W, Kimelman D: Mechanistic insights from structural studies of b-catenin and its binding partners. J Cell Sci 2007, 120:3337-3344
30. Clevers H: Wnt/beta-catenin signaling in development and disease. Cell 2006, 127:469-480
31. Polakis P: The oncogenic activation of b-catenin. Curr Opin Genet Dev 1999, 9:15-21
32. Willert K, Nusse R: b-Catenin: a key mediator of Wnt signaling. Curr Opin Genet Dev 1998, 8:95-102
33. Polakis P: The many ways of Wnt in cancer. Curr Opin Genet Dev 2007, 17:45-51
34. Lazar AJ, Calonje E, Grayson W, Dei Tos AP, Mihm Jr MC, Redston M, McKee PH: Pilomatrix carcinomas contain mutations in CTNNB1, the gene encoding beta-catenin. J Cutan Pathol 2005, 32:148-157
35. Gavert N, Ben-Ze'ev A: Beta-catenin signaling in biological control and cancer. J Cell Biochem 2007, 102:820-828
36. Shitoh K, Konishi F, Iijima T, Ohdaira T, Sakai K, Kanazawa K, Miyaki M: A novel case of a sporadic desmoid tumour with mutation of the b-catenin gene. J Clin Pathol 1999, 52:695-696
37. Amary MF, Pauwels P, Meulemans E, Roemen GM, Islam L, Idowu B, Bousdras K, Diss TC, O'Donnell P, Flanagan AM: Detection of b-catenin mutations in paraffin-embedded sporadic desmoid-type fibromatosis by mutation-specific restriction enzyme digestion (MSRED): an ancillary diagnostic tool. Am J Surg Pathol 2007, 31:1299-1309
38. Saito T, Oda Y, Kawaguchi K, Tanaka K, Matsuda S, Tamiya S, Iwamoto Y, Tsuneyoshi M: Possible association between higher b-catenin mRNA expression and mutated beta-catenin in sporadic desmoid tumors: real-time semiquantitative assay by TaqMan polymerase chain reaction. Lab Invest 2002, 82:97-103
39. Tejpar S, Nollet F, Li C, Wunder JS, Michils G, dal Cin P, Van Cutsem E, Bapat B, van Roy F, Cassiman JJ, Alman BA: Predominance of b-catenin mutations and b-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor). Oncogene 1999, 18:6615-6620
40. Miyoshi Y, Iwao K, Nawa G, Yoshikawa H, Ochi T, Nakamura Y: Frequent mutations in the b-catenin gene in desmoid tumors from patients without familial adenomatous polyposis. Oncol Res 1998, 10:591-594
41. Jilong Y, Jian W, Xiaoyan Z, Xiaoqiu L, Xiongzeng Z: Analysis of APC/b-catenin genes mutations and Wnt signalling pathway in desmoid-type fibromatosis. Pathology 2007, 39:319-325
42. Koch A, Denkhaus D, Albrecht S, Leuschner I, von Schweinitz D, Pietsch T: Childhood hepatoblastomas frequently carry a mutated degradation targeting box of the b-catenin gene. Cancer Res 1999, 59:269-273
43. Saito T, Oda Y, Tanaka K, Matsuda S, Tamiya S, Iwamoto Y, Tsuneyoshi M: Beta-catenin nuclear expression correlates with cyclin D1 overexpression in sporadic desmoid tumours. J Pathol 2001, 195:222-228
44. Abraham SC, Reynolds C, Lee JH, Montgomery EA, Baisden BL, Krasinskas AM, Wu TT: Fibromatosis of the breast and mutations involving the APC/b-catenin pathway. Hum Pathol 2002, 33:39-46
45. Ng TL, Gown AM, Barry TS, Cheang MC, Chan AK, Turbin DA, Hsu FD, West RB, Nielsen TO: Nuclear b-catenin in mesenchymal tumors. Mod Pathol 2005, 18:68-74
46. Lewis JJ, Boland PJ, Leung DH, Woodruff JM, Brennan MF: The enigma of desmoid tumors. Ann Surg 1999, 229:863-872
47. Montgomery E, Torbenson MS, Kaushal M, Fisher C, Abraham SC: b-Catenin immunohistochemistry separates mesenteric fibromatosis from gastrointestinal stromal tumor and sclerosing mesenteritis. Am J Surg Pathol 2002, 26:1296-1301
48. Bhattacharya B, Dilworth HP, Iacobuzio-Donahue C, Ricci F, Weber K, Furlong MA, Fisher C, Montgomery E: Nuclear b-catenin expression distinguishes deep fibromatosis from other benign and malignant fibroblastic and myofibroblastic lesions. Am J Surg Pathol 2005, 29:653-659
49. Gebert C, Hardes J, Kersting C, August C, Supper H, Winkelmann W, Buerger H, Gosheger G: Expression of b-catenin and p53 are prognostic factors in deep aggressive fibromatosis. Histopathology 2007, 50:491-497
50. Luo J, Chen J, Deng ZL, Luo X, Song WX, Sharff KA, Tang N, Haydon RC, Luu HH, He TC: Wnt signaling and human diseases: what are the therapeutic implications? Lab Invest 2007, 87:97-103
51. Herbst A, Kolligs FT: Wnt signaling as a therapeutic target for cancer. Methods Mol Biol 2007, 361:63-91