β-Catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis

Histopathology

Volumn 62, Issue 2, 2013, Pages 294-304

  Huss, Sebastian ^a   Nehles, Julia ^a   Binot, Elke ^a   Wardelmann, Eva ^a   Mittler, Jens ^b   Kleine, Michaela Angelika ^a   Künstlinger, Helen ^a   Hartmann, Wolfgang ^a   Hohenberger, Peter ^c   Merkelbach Bruse, Sabine ^a   Buettner, Reinhard ^a   Schildhaus, Hans Ulrich ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

catenin; CTNNB1; Desmoid tumour; GIST; Mesenteric fibromatosis

Indexed keywords

BETA CATENIN;

ABDOMINAL FIBROMATOSIS; ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; FEMALE; GARDNER SYNDROME; GASTROINTESTINAL STROMAL TUMOR; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MESENTERIC DESMOID TYPE FIBROMATOSIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; RETROPERITONEAL FIBROSIS; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BETA CATENIN; CELL NUCLEUS; CHILD; DIAGNOSTIC ERRORS; FEMALE; FIBROMATOSIS, AGGRESSIVE; GARDNER SYNDROME; GASTROINTESTINAL STROMAL TUMORS; HUMANS; MALE; MESENTERY; MIDDLE AGED; MUTATION; PERITONEAL NEOPLASMS; RETROPERITONEAL FIBROSIS; YOUNG ADULT;

EID: 84871179128     PISSN: 03090167     EISSN: 13652559     Source Type: Journal    
DOI: 10.1111/j.1365-2559.2012.04355.x     Document Type: Article

References (34)

1. Gronchi A, Casali PG, Mariani L et al. Status of surgical margins and prognosis in adult soft tissue sarcomas of the extremities: a series of patients treated at a single institution. J. Clin. Oncol. 2005; 23; 96-104.
2. Moon JI, Selvaggi G, Nishida S et al. Intestinal transplantation for the treatment of neoplastic disease. J. Surg. Oncol. 2005; 92; 284-291.
3. Stoeckle E, Coindre JM, Longy M et al. A critical analysis of treatment strategies in desmoid tumours: a review of a series of 106 cases. Eur. J. Surg. Oncol. 2009; 35; 129-134.
4. Azzarelli A, Gronchi A, Bertulli R et al. Low-dose chemotherapy with methotrexate and vinblastine for patients with advanced aggressive fibromatosis. Cancer 2001; 92; 1259-1264.
5. Chugh R, Wathen JK, Patel SR et al. Efficacy of imatinib in aggressive fibromatosis: results of a phase II multicenter Sarcoma Alliance for Research through Collaboration (SARC) trial. Clin. Cancer Res. 2010; 16; 4884-4891.
6. Heinrich MC, McArthur GA, Demetri GD et al. Clinical and molecular studies of the effect of imatinib on advanced aggressive fibromatosis (desmoid tumor). J. Clin. Oncol. 2006; 24; 1195-1203.
7. Bienz M, Clevers H. Linking colorectal cancer to Wnt signaling. Cell 2000; 103; 311-320.
8. Koesters R, Niggli F, von Knebel Doeberitz M, Stallmach T. Nuclear accumulation of beta-catenin protein in Wilms' tumours. J. Pathol. 2003; 199; 68-76.
9. Giardiello FM, Petersen GM, Piantadosi S et al. APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis. Gut 1997; 40; 521-525.
10. Tejpar S, Nollet F, Li C et al. Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor). Oncogene 1999; 18; 6615-6620.
11. Lips DJ, Barker N, Clevers H, Hennipman A. The role of APC and beta-catenin in the aetiology of aggressive fibromatosis (desmoid tumors). Eur. J. Surg. Oncol. 2009; 35; 3-10.
12. Jilong Y, Jian W, Xiaoyan Z, Xiaoqiu L, Xiongzeng Z. Analysis of APC/beta-catenin gene mutations and Wnt signalling pathway in desmoid-type fibromatosis. Pathology 2007; 39; 319-325.
13. Cheon SS, Cheah AY, Turley S et al. Beta-Catenin stabilization dysregulates mesenchymal cell proliferation, motility, and invasiveness and causes aggressive fibromatosis and hyperplastic cutaneous wounds. Proc. Natl Acad. Sci. USA 2002; 99; 6973-6978.
14. Gebert C, Hardes J, Kersting C et al. Expression of beta-catenin and p53 are prognostic factors in deep aggressive fibromatosis. Histopathology 2007; 50; 491-497.
15. Huss S, Wardelmann E, Goltz D et al. Activating PDGFRA mutations in inflammatory fibroid polyps occur in exons 12, 14 and 18 and are associated with tumour localization. Histopathology 2012; 61; 59-68.
16. Lotfi AM, Dozois RR, Gordon H et al. Mesenteric fibromatosis complicating familial adenomatous polyposis: predisposing factors and results of treatment. Int. J. Colorectal Dis. 1989; 4; 30-36.
17. Clark SK, Neale KF, Landgrebe JC, Phillips RK. Desmoid tumours complicating familial adenomatous polyposis. Br. J. Surg. 1999; 86; 1185-1189.
18. Rodriguez JA, Guarda LA, Rosai J. Mesenteric fibromatosis with involvement of the gastrointestinal tract. A GIST simulator: a study of 25 cases. Am. J. Clin. Pathol. 2004; 121; 93-98.
19. Montgomery E, Torbenson MS, Kaushal M, Fisher C, Abraham SC. Beta-catenin immunohistochemistry separates mesenteric fibromatosis from gastrointestinal stromal tumor and sclerosing mesenteritis. Am. J. Surg. Pathol. 2002; 26; 1296-1301.
20. Miettinen M, Lasota J. Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis. Arch. Pathol. Lab. Med. 2006; 130; 1466-1478.
21. Miettinen M, Wang ZF, Lasota J. DOG1 antibody in the differential diagnosis of gastrointestinal stromal tumors: a study of 1840 cases. Am. J. Surg. Pathol. 2009; 33; 1401-1408.
22. Lasota J, Miettinen M. Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours. Histopathology 2008; 53; 245-266.
23. Mitchinson MJ. Aortic disease in idiopathic retroperitoneal and mediastinal fibrosis. J. Clin. Pathol. 1972; 25; 287-293.
24. Chung L, Lau SK, Jiang Z et al. Overlapping features between dedifferentiated liposarcoma and undifferentiated high-grade pleomorphic sarcoma. Am. J. Surg. Pathol. 2009; 33; 1594-1600.
25. Miyoshi Y, Iwao K, Nawa G, Yoshikawa H, Ochi T, Nakamura Y. Frequent mutations in the beta-catenin gene in desmoid tumors from patients without familial adenomatous polyposis. Oncol. Res. 1998; 10; 591-594.
26. Abraham SC, Reynolds C, Lee JH et al. Fibromatosis of the breast and mutations involving the APC/beta-catenin pathway. Hum. Pathol. 2002; 33; 39-46.
27. Bo N, Wang D, Wu B, Chen L, Ma R. Analysis of beta-catenin expression and exon 3 mutations in pediatric sporadic aggressive fibromatosis. Pediatr. Dev. Pathol. 2011. [Epub ahead of print].
28. Saito T, Oda Y, Kawaguchi K et al. Possible association between higher beta-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.
29. Salas S, Dufresne A, Bui B et al. Prognostic factors influencing progression-free survival determined from a series of sporadic desmoid tumors: a wait-and-see policy according to tumor presentation. J. Clin. Oncol. 2011; 29; 3553-3558.
30. 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.
31. 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.
32. Curia MC, Zuckermann M, De Lellis L et al. Sporadic childhood hepatoblastomas show activation of beta-catenin, mismatch repair defects and p53 mutations. Mod. Pathol. 2008; 21; 7-14.
33. 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; 31; 1299-1309.
34. 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.