CTNNB1 mutation analysis is a useful tool for the diagnosis of desmoid tumors: A study of 260 desmoid tumors and 191 potential morphologic mimics

Modern Pathology

Volumn 25, Issue 12, 2012, Pages 1551-1558

  Le Guellec, Sophie ^a   Soubeyran, Isabelle ^b   Rochaix, Philippe ^a   Filleron, Thomas ^a   Neuville, Agnès ^b,c   Hostein, Isabelle ^b   Coindre, Jean Michel ^b,c  

^a INSTITUT CLAUDIUS REGAUD   (France)

^b INSTITUT BERGONIÉ   (France)

^c UNIVERSITÉ DE BORDEAUX   (France)

Author keywords

CTNNB1 mutation; desmoid tumor; diagnostic tool; sequencing

Indexed keywords

BETA CATENIN; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR;

ADOLESCENT; ADULT; AGED; ARTICLE; CANCER DIAGNOSIS; CHILD; CORE NEEDLE BIOPSY; DESMOID TUMOR; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; EXON; FEMALE; GARDNER SYNDROME; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; INFANT; MAJOR CLINICAL STUDY; MALE; NEEDLE BIOPSY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPINDLE CELL CARCINOMA; TUMOR VOLUME;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BETA CATENIN; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROMATOSIS, ABDOMINAL; FIBROMATOSIS, AGGRESSIVE; FORMALDEHYDE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PARAFFIN EMBEDDING; SARCOMA; TISSUE FIXATION; YOUNG ADULT;

EID: 84870536611     PISSN: 08933952     EISSN: 15300285     Source Type: Journal    
DOI: 10.1038/modpathol.2012.115     Document Type: Article

References (32)

1. Reitamo JJ, Hayry P, Nykyri E, et al. The desmoid tumor. I. Incidence, sex-, age- and anatomical distribution in the Finnish population. Am J Clin Pathol 1982; 77:665-673. (Pubitemid 12073161)
2. Weiss RJ, Treiber M, Zahlten-Hinguranage A, et al. [Improving local control in patients with aggressive fibromatosis by combined surgery and radiotherapy]. Chirurg 2002;73:615-621.
3. Clark SK, Phillips RK. Desmoids in familial adenomatous polyposis. Br J Surg 1996;83:1494-1504. (Pubitemid 26365061)
4. Mendenhall WM, Zlotecki RA, Morris CG, et al. Aggressive fibromatosis. Am J Clin Oncol 2005;28: 211-215.
5. Melis M, Zager JS, Sondak VK. Multimodality management of desmoid tumors: how important is a negative surgical margin? J Surg Oncol 2008;98:594-602.
6. Fiore M, Rimareix F, Mariani L, et al. Desmoid-type fibromatosis: a front-line conservative approach to select patients for surgical treatment. Ann Surg Oncol 2009;16:2587-2593.
7. Alman BA, Li C, Pajerski ME, et al. Increased betacatenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors). Am J Pathol 1997;15:329-334. (Pubitemid 27330053)
8. Sato H, Hasegawa T, Kanai Y, et al. Expression of cadherins and their undercoat proteins (alpha-, beta-, and gamma-catenins and p120) and accumulation of beta-catenin with no gene mutations in synovial sarcoma. Virchows Arch 2001;438:23-30. (Pubitemid 32128186)
9. Amary MF, Pauwels P, Meulemans E, et al. Detection of beta-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;3: 1299-1309. (Pubitemid 47329665)
10. Bhattacharya B, Dilworth HP, Iacobuzio-Donahue C, et al. Nuclear beta-catenin expression distinguishes deep fibromatosis from other benign and malignant fibroblastic and myofibroblastic lesions. Am J Surg Pathol 2005;29:653-659. (Pubitemid 40577876)
11. Carlson JW, Fletcher CD. Immunohistochemistry for beta-catenin in the differential diagnosis of spindle cell lesions: analysis of a series and review of the literature. Histopathology 2007;51:509-514. (Pubitemid 47437826)
12. Montgomery E, Folpe AL. The diagnostic value of betacatenin immunohistochemistry. Adv Anat Pathol 2005;12:350-356.
13. Ng TL, Gown AM, Barry TS, et al. Nuclear betacatenin in mesenchymal tumors. Mod Pathol 2005;18: 68-74.
14. Lazar AJ, Tuvin D, Hajibashi S, et al. Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors. Am J Pathol 2008;173:1518-1527.
15. Domont J, Salas S, Lacroix L, et al. High frequency of beta-catenin heterozygous mutations in extra-abdominal fibromatosis: a potential molecular tool for disease management. Br J Cancer 2010;102:1032-1036.
16. Tejpar S, Nollet F, Li C, et al. Predominance of betacatenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor). Oncogene 1999;18:6615-6620.
17. Lacroix-Triki M, Geyer FC, Lambros MB, et al. betacatenin/ Wnt signalling pathway in fibromatosis, metaplastic carcinomas and phyllodes tumours of the breast. Mod Pathol 2010;23:1438-1448.
18. Garcia-Rostan G, Tallini G, Herrero A, et al. Frequent mutation and nuclear localization of beta-catenin in anaplastic thyroid carcinoma. Cancer Res 1999;59: 1811-1815. (Pubitemid 29186147)
19. Oliva E, Sarrio D, Brachtel EF, et al. High frequency of beta-catenin mutations in borderline endometrioid tumours of the ovary. J Pathol 2006;208:708-713.
20. Palacios J, Gamallo C. Mutations in the beta-catenin gene (CTNNB1) in endometrioid ovarian carcinomas. Cancer Res 1998;58:1344-1347. (Pubitemid 28193586)
21. Voeller HJ, Truica CI, Gelmann EP. Beta-catenin mutations in human prostate cancer. Cancer Res 1998; 58:2520-2523. (Pubitemid 28275418)
22. Koch A, Denkhaus D, Albrecht S, et al. Childhood hepatoblastomas frequently carry a mutated degradation targeting box of the beta-catenin gene. Cancer Res 1999;59:269-273. (Pubitemid 29048850)
23. Miyoshi Y, Iwao K, Nagasawa Y, et al. Activation of the beta-catenin gene in primary hepatocellular carcinomas by somatic alterations involving exon 3. Cancer Res 1998;58:2524-2527. (Pubitemid 28275419)
24. Fukuchi T, Sakamoto M, Tsuda H, et al. Beta-catenin mutation in carcinoma of the uterine endometrium. Cancer Res 1998;58:3526-3528. (Pubitemid 28376543)
25. Mirabelli-Primdahl L, Gryfe R, Kim H, et al. Betacatenin mutations are specific for colorectal carcinomas with microsatellite instability but occur in endometrial carcinomas irrespective of mutator pathway. Cancer Res 1999;59:3346-3351. (Pubitemid 29334489)
26. Colombo C, Bolshakov S, Hajibashi S, et al. 'Difficult to diagnose' desmoid tumours: a potential role for CTNNB1 mutational analysis. Histopathology 2011;59: 336-340.
27. Iwao K, Miyoshi Y, Nawa G, et al. Frequent betacatenin abnormalities in bone and soft-tissue tumors. Jpn J Cancer Res 1999;90:205-209. (Pubitemid 29112321)
28. Kuhnen C, Herter P, Muller O, et al. Beta-catenin in soft tissue sarcomas: expression is related to proliferative activity in high-grade sarcomas. Mod Pathol 2000;13:1005-1013.
29. Saito T, Oda Y, Sakamoto A, et al. Prognostic value of the preserved expression of the E-cadherin and catenin families of adhesion molecules and of beta-catenin mutations in synovial sarcoma. J Pathol 2000;192: 342-350.
30. Saito T, Oda Y, Tanaka K, et al. beta-catenin nuclear expression correlates with cyclin D1 overexpression in sporadic desmoid tumours. J Pathol 2001;195:222-228. (Pubitemid 32899032)
31. Sakamoto A, Oda Y, Adachi T, et al. Beta-catenin accumulation and gene mutation in exon 3 in dedifferentiated liposarcoma and malignant fibrous histiocytoma. Arch Pathol Lab Med 2002;126: 1071-1078. (Pubitemid 36221845)
32. Saito T, Oda Y, Yamamoto H, et al. Nuclear betacatenin correlates with cyclin D1 expression in spindle and pleomorphic sarcomas but not in synovial sarcoma. Hum Pathol 2006;37:689-697. (Pubitemid 43956534)