Polishing the crystal ball: Knowing genotype improves ability to predict desmoid disease in patients with familial adenomatous polyposis

Diseases of the Colon and Rectum

Volumn 52, Issue 10, 2009, Pages 1762-1766

  Elayi, Elodie ^a   Manilich, Elena ^a   Church, James ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Desmoid disease; Familial adenomatous polyposis

Indexed keywords

ADENOMATOUS POLYP; ARTICLE; COLON POLYPOSIS; DESMOID TUMOR; FAMILY HISTORY; FEMALE; GENETIC RISK; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PREDICTION; RISK ASSESSMENT;

ADENOMATOUS POLYPOSIS COLI; CHI-SQUARE DISTRIBUTION; FEMALE; FIBROMATOSIS, AGGRESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; PREDICTIVE VALUE OF TESTS; PROSPECTIVE STUDIES; RISK ASSESSMENT; RISK FACTORS;

EID: 70350117087     PISSN: 00123706     EISSN: 15300358     Source Type: Journal    
DOI: 10.1007/DCR.0b013e3181b5518a     Document Type: Article

References (17)

1. Hartley JE, Church JM, Gupta S, McGannon E, Fazio VW. Significance of incidental desmoids identified during surgery for familial adenomatous polyposis. Dis Colon Rectum 2004;47: 334-338
2. Durno C, Monga N, Bapat B, Berk T, Cohen Z, Gallinger S. Does early colectomy increase desmoid risk in familial adenomatous polyposis? Clin Gastroenterol Hepatol 2007;5:1190-1194
3. Vogel J, Church JM, LaGuardia L. Minimally invasive pouch surgery predisposes to desmoid tumor formation in patients with familial adenomatous polyposis. Dis Colon Rectum 2005; 48:662.
4. Church J, Manilich E, LaGuardia L, Bova K. Can desmoids be predicted? The Use of knowledge discovery techniques in familial adenomatous polyposis. Dis Colon Rectum 2006;49:722.
5. Friedl W, Meuschel S, Caspari R, et al. Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein. Hum Genet 1996;97:579-584
6. Benoit L, Faivre L, Cheynel N, et al. 3′ Mutation of the APC gene and family history of FAP in a patient with apparently sporadic desmoid tumors. J Clin Gastroenterol 2007;41:297-300.
7. Couture J, Mitri A, Lagace R, et al. A germline mutation at the extreme 3′ end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor. Clin Genet 2000;57:205-212
8. Spigelman AD. Familial adenomatous polyposis and the upper gastrointestinal tract. Semin Colon Rectal Surg 1995;6:26-28
9. Groves CJ, Saunders BP, Spigelman AD, Phillips RK. Duodenal cancer in patients with familial adenomatous polyposis (FAP): results of a 10 year prospective study. Gut 2002;50:636-641
10. Bus PJ, Verspaget HW, van Krieken JH, et al. Treatment of mesenteric desmoid tumours with the anti-oestrogenic agent toremifene: case histories and an overview of the literature. Eur J Gastroenterol Hepatol 1999;11:1179-1183
11. Tonelli F, Ficari F, Valanzano R, Brandi ML. Treatment of desmoids and mesenteric fibromatosis in familial adenomatous polyposis with raloxifene. Tumori 2003;89:391-396
12. Skapek SX, Ferguson WS, Granowetter L, et al. Vinblastine and methotrexate for desmoid fibromatosis in children: results of a Pediatric Oncology Group Phase II Trial. J Clin Oncol 2007;25: 501-506
13. Meds Wcislo G, Szarlej-Wcislo K, Szczylik C. Control of aggressive fibromatosis by treatment with imatinib mesylate. A case report and review of the literature. J Cancer Res Clin Oncol 2007;133:533-538
14. Schnitzler M, Cohen Z, Blackstein M, et al. Chemotherapy for desmoid tumors in association with familial adenomatous polyposis. Dis Colon Rectum 1997;40:798-801.
15. Church JM, McGannon E. Prior pregnancy ameliorates the course of intra-abdominal desmoid tumors in patients with familial adenomatous polyposis. Dis Colon Rectum 2000;43: 445-450
16. Church J, Lynch C, Neary P, Laguardia L, Elayi E. A desmoid tumor-staging system separates patients with intra-abdominal, familial adenomatous polyposis-associated desmoid disease by behavior and prognosis. Dis Colon Rectum 2008;51:897-901.
17. Speake D, Evans D, Lalloo F, Scott N, Hill J. Desmoid tumors in patients with familial adenomatous polyposis and desmoid region adenomatous polyposis coli mutations. Br J Surg 2007;94: 1009-1011