Desmoid Tumors. A Comprehensive Review of the Evolving Biology, Unpredictable Behavior, and Myriad of Management Options.

Hematology/Oncology Clinics of North America

Volumn 27, Issue 5, 2013, Pages 989-1005

  Devata, Sumana ^a   Chugh, Rashmi ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Aggressive fibromatosis; Desmoid; Familial adenomatous polyposis; Review; Tyrosine kinase inhibitors

Indexed keywords

ALPHA INTERFERON; ALPHA2B INTERFERON; APC PROTEIN; BETA CATENIN; CYCLOOXYGENASE 2; CYCLOPHOSPHAMIDE; DACARBAZINE; DOXORUBICIN; ESTROGEN RECEPTOR BETA; ETOPOSIDE; GOSERELIN; IFOSFAMIDE; IMATINIB; INDOMETACIN; KI 67 ANTIGEN; MEDROXYPROGESTERONE ACETATE; METHOTREXATE; NONSTEROID ANTIINFLAMMATORY AGENT; PREDNISOLONE; PROGESTERONE; RETINOIC ACID; SORAFENIB; SULINDAC; TAMOXIFEN; TESTOLACTONE; TOREMIFENE; VINBLASTINE; VINCA ALKALOID; VINCRISTINE; WNT PROTEIN;

ABDOMINAL SURGERY; ABDOMINAL TUMOR; ABDOMINAL WALL; CANCER CHEMOTHERAPY; CANCER EPIDEMIOLOGY; CANCER RADIOTHERAPY; CANCER SURVIVAL; COLON CARCINOMA; COMPUTER ASSISTED TOMOGRAPHY; CONSERVATIVE TREATMENT; CRYOABLATION; DESMOID TUMOR; DIAGNOSTIC TEST; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; FAMILIAL COLON POLYPOSIS; FATIGUE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; HIGH THROUGHPUT SCREENING; HORMONAL THERAPY; HUMAN; MULTIMODALITY CANCER THERAPY; NEOPLASM; NUCLEAR MAGNETIC RESONANCE IMAGING; OVARY CYST; OVERALL SURVIVAL; PATHOGENESIS; PREGNANCY; PRIORITY JOURNAL; PROGRESSION FREE SURVIVAL; PROPHYLAXIS; PROTEIN FUNCTION; REVIEW; RISK FACTOR; SIDE EFFECT; SIGNAL TRANSDUCTION; SOMATIC MUTATION; SYSTEMIC THERAPY; TREATMENT RESPONSE; TRISOMY 8; TUMOR INVASION; WEIGHT GAIN;

AGGRESSIVE FIBROMATOSIS; DESMOID; FAMILIAL ADENOMATOUS POLYPOSIS; REVIEW; TYROSINE KINASE INHIBITORS;

FIBROMATOSIS, AGGRESSIVE; HUMANS;

EID: 84884974707     PISSN: 08898588     EISSN: 15581977     Source Type: Journal    
DOI: 10.1016/j.hoc.2013.07.008     Document Type: Review

References (103)

1. Reitamo J.J., 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(6):665-673.
2. Papagelopoulos P.J., Mavrogenis A.F., Mitsiokapa E.A., et al. Current trends in the management of extra-abdominal desmoid tumours. World J Surg Oncol 2006, 4:21.
3. Hansmann A., Adolph C., Vogel T., et al. High-dose tamoxifen and sulindac as first-line treatment for desmoid tumors. Cancer 2004, 100(3):612-620.
4. Mankin H.J., Hornicek F.J., Springfield D.S. Extra-abdominal desmoid tumors: a report of 234 cases. JSurg Oncol 2010, 102(5):380-384.
5. Bertario L., Russo A., Sala P., et al. Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis. Int J Cancer 2001, 95(2):102-107.
6. Caspari R., Olschwang S., Friedl W., et al. Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet 1995, 4(3):337-340.
7. Durno C., Monga N., Bapat B., et al. Does early colectomy increase desmoid risk in familial adenomatous polyposis?. Clin Gastroenterol Hepatol 2007, 5(10):1190-1194.
8. Lefevre J.H., Parc Y., Kerneis S., et al. Risk factors for development of desmoid tumours in familial adenomatous polyposis. Br J Surg 2008, 95(9):1136-1139.
9. Nieuwenhuis M.H., Lefevre J.H., Bulow S., et al. Family history, surgery, and APC mutation are risk factors for desmoid tumors in familial adenomatous polyposis: an international cohort study. Dis Colon Rectum 2011, 54(10):1229-1234.
10. Li C., Bapat B., Alman B.A. Adenomatous polyposis coli gene mutation alters proliferation through its beta-catenin-regulatory function in aggressive fibromatosis (desmoid tumor). Am J Pathol 1998, 153(3):709-714.
11. Rubinfeld B., Albert I., Porfiri E., et al. Binding of GSK3beta to the APC-beta-catenin complex and regulation of complex assembly. Science 1996, 272(5264):1023-1026.
12. Huss S., Nehles J., Binot E., et al. Beta-catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis. Histopathology 2013, 62(2):294-304.
13. Le Guellec S., Soubeyran I., Rochaix P., et al. CTNNB1 mutation analysis is a useful tool for the diagnosis of desmoid tumors: a study of 260 desmoid tumors and 191 potential morphologic mimics. Mod Pathol 2012, 25(12):1551-1558.
14. 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(47):6615-6620.
15. Lazar A.J., Hajibashi S., Lev D. Desmoid tumor: from surgical extirpation to molecular dissection. Curr Opin Oncol 2009, 21(4):352-359.
16. Barker N. The canonical Wnt/beta-catenin signalling pathway. Methods Mol Biol 2008, 468:5-15.
17. Carothers A.M., Rizvi H., Hasson R.M., et al. Mesenchymal stromal cell mutations and wound healing contribute to the etiology of desmoid tumors. Cancer Res 2012, 72(1):346-355.
18. Kattentidt Mouravieva A.A., Geurts-Giele I.R., de Krijger R.R., et al. Identification of familial adenomatous polyposis carriers among children with desmoid tumours. Eur J Cancer 2012, 48(12):1867-1874.
19. Wang W.L., Nero C., Pappo A., et al. CTNNB1 genotyping and APC screening in pediatric desmoid tumors: a proposed algorithm. Pediatr Dev Pathol 2012, 15(5):361-367.
20. Colombo C., Bolshakov S., Hajibashi S., et al. 'Difficult to diagnose' desmoid tumours: a potential role for CTNNB1 mutational analysis. Histopathology 2011, 59(2):336-340.
21. Schlemmer M. Desmoid tumors and deep fibromatoses. Hematol Oncol Clin North Am 2005, 19(3):565-571. vii-viii.
22. Ballo M.T., Zagars G.K., Pollack A., et al. Desmoid tumor: prognostic factors and outcome after surgery, radiation therapy, or combined surgery and radiation therapy. JClin Oncol 1999, 17(1):158-167.
23. Church J.M. Mucosal ischemia caused by desmoid tumors in patients with familial adenomatous polyposis: report of four cases. Dis Colon Rectum 1998, 41(5):661-663.
24. Lee J.C., Thomas J.M., Phillips S., et al. Aggressive fibromatosis: MRI features with pathologic correlation. AJR Am J Roentgenol 2006, 186(1):247-254.
25. Robbin M.R., Murphey M.D., Temple H.T., et al. Imaging of musculoskeletal fibromatosis. Radiographics 2001, 21(3):585-600.
26. Kingston C.A., Owens C.M., Jeanes A., et al. Imaging of desmoid fibromatosis in pediatric patients. AJR Am J Roentgenol 2002, 178(1):191-199.
27. Francis I.R., Dorovini-Zis K., Glazer G.M., et al. The fibromatoses: CT-pathologic correlation. AJR Am J Roentgenol 1986, 147(5):1063-1066.
28. Romero J.A., Kim E.E., Kim C.G., et al. Different biologic features of desmoid tumors in adult and juvenile patients: MR demonstration. JComput Assist Tomogr 1995, 19(5):782-787.
29. Alman B.A., Pajerski M.E., Diaz-Cano S., et al. Aggressive fibromatosis (desmoid tumor) is a monoclonal disorder. Diagn Mol Pathol 1997, 6(2):98-101.
30. Li M., Cordon-Cardo C., Gerald W.L., et al. Desmoid fibromatosis is a clonal process. Hum Pathol 1996, 27(9):939-943.
31. Enzinger F.M., Shiraki M. Musculo-aponeurotic fibromatosis of the shoulder girdle (extra-abdominal desmoid). Analysis of thirty cases followed up for ten or more years. Cancer 1967, 20(7):1131-1140.
32. Owens C.L., Sharma R., Ali S.Z. Deep fibromatosis (desmoid tumor): cytopathologic characteristics, clinicoradiologic features, and immunohistochemical findings on fine-needle aspiration. Cancer 2007, 111(3):166-172.
33. Mignemi N.A., Itani D.M., Fasig J.H., et al. Signal transduction pathway analysis in desmoid-type fibromatosis: transforming growth factor-beta, COX2 and sex steroid receptors. Cancer Sci 2012, 103(12):2173-2180.
34. Poon R., Smits R., Li C., et al. Cyclooxygenase-two (COX-2) modulates proliferation in aggressive fibromatosis (desmoid tumor). Oncogene 2001, 20(4):451-460.
35. Signoroni S., Frattini M., Negri T., et al. Cyclooxygenase-2 and platelet-derived growth factor receptors as potential targets in treating aggressive fibromatosis. Clin Cancer Res 2007, 13(17):5034-5040.
36. Deyrup A.T., Tretiakova M., Montag A.G. Estrogen receptor-beta expression in extraabdominal fibromatoses: an analysis of 40 cases. Cancer 2006, 106(1):208-213.
37. Mills B.G., Frausto A., Brien E. Cytokines associated with the pathophysiology of aggressive fibromatosis. JOrthop Res 2000, 18(4):655-662.
38. Santos G.A., Cunha I.W., Rocha R.M., et al. Evaluation of estrogen receptor alpha, estrogen receptor beta, progesterone receptor, and cKIT expression in desmoids tumors and their role in determining treatment options. Biosci Trends 2010, 4(1):25-30.
39. Dubova E.A., Sidorenko T.V., Shchyogolev A.I., et al. Immunohistochemical characteristics of desmoid tumors. Bull Exp Biol Med 2012, 152(6):743-747.
40. Dei Tos A.P., Dal Cin P. The role of cytogenetics in the classification of soft tissue tumours. Virchows Arch 1997, 431(2):83-94.
41. Qi H., Dal Cin P., Hernandez J.M., et al. Trisomies 8 and 20 in desmoid tumors. Cancer Genet Cytogenet 1996, 92(2):147-149.
42. Clark S.K., Phillips R.K. Desmoids in familial adenomatous polyposis. Br J Surg 1996, 83(11):1494-1504.
43. Penna C., Tiret E., Parc R., et al. Operation and abdominal desmoid tumors in familial adenomatous polyposis. Surg Gynecol Obstet 1993, 177(3):263-268.
44. Quintini C., Ward G., Shatnawei A., et al. Mortality of intra-abdominal desmoid tumors in patients with familial adenomatous polyposis: a single center review of 154 patients. Ann Surg 2012, 255(3):511-516.
45. Kadmon M., Moslein G., Buhr H.J., et al. Desmoid tumors in patients with familial adenomatous polyposis (FAP). Clinical and therapeutic observations from the Heidelberg polyposis register. Chirurg 1995, 66(10):997-1005. [in German].
46. Johner A., Tiwari P., Zetler P., et al. Abdominal wall desmoid tumors associated with pregnancy: current concepts. Expert Rev Anticancer Ther 2009, 9(11):1675-1682.
47. Way J.C., Culham B.A. Desmoid tumour. The risk of recurrent or new disease with subsequent pregnancy: a case report. Can J Surg 1999, 42(1):51-54.
48. De Cian F., Delay E., Rudigoz R.C., et al. Desmoid tumor arising in a cesarean section scar during pregnancy: monitoring and management. Gynecol Oncol 1999, 75(1):145-148.
49. Caldwell E.H. Desmoid tumor: musculoaponeurotic fibrosis of the abdominal wall. Surgery 1976, 79(1):104-106.
50. Reitamo J.J., Scheinin T.M., Hayry P. The desmoid syndrome. New aspects in the cause, pathogenesis and treatment of the desmoid tumor. Am J Surg 1986, 151(2):230-237.
51. Lopez R., Kemalyan N., Moseley H.S., et al. Problems in diagnosis and management of desmoid tumors. Am J Surg 1990, 159(5):450-453.
52. Urist M.R. Trauma and neoplasm; report of a case of desmoid tumor following simple fracture of the radius and ulna. Am J Surg 1957, 93(4):682-688.
53. Wanjeri J.K., Opeya C.J. Amassive abdominal wall desmoid tumor occurring in a laparotomy scar: a case report. World J Surg Oncol 2011, 9:35.
54. Rock M.G., Pritchard D.J., Reiman H.M., et al. Extra-abdominal desmoid tumors. JBone Joint Surg Am 1984, 66(9):1369-1374.
55. Spear M.A., Jennings L.C., Mankin H.J., et al. Individualizing management of aggressive fibromatoses. Int J Radiat Oncol Biol Phys 1998, 40(3):637-645.
56. Sorensen A., Keller J., Nielsen O.S., et al. Treatment of aggressive fibromatosis: a retrospective study of 72 patients followed for 1-27 years. Acta Orthop Scand 2002, 73(2):213-219.
57. Lev D., Kotilingam D., Wei C., et al. Optimizing treatment of desmoid tumors. JClin Oncol 2007, 25(13):1785-1791.
58. Merchant N.B., Lewis J.J., Woodruff J.M., et al. Extremity and trunk desmoid tumors: a multifactorial analysis of outcome. Cancer 1999, 86(10):2045-2052.
59. 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(9):2587-2593.
60. Bonvalot S., Eldweny H., Haddad V., et al. Extra-abdominal primary fibromatosis: aggressive management could be avoided in a subgroup of patients. Eur J Surg Oncol 2008, 34(4):462-468.
61. Phillips S.R., A'Hern R., Thomas J.M. Aggressive fibromatosis of the abdominal wall, limbs and limb girdles. Br J Surg 2004, 91(12):1624-1629.
62. Pignatti G., Barbanti-Brodano G., Ferrari D., et al. Extraabdominal desmoid tumor. A study of 83 cases. Clin Orthop Relat Res 2000, (375):207-213.
63. Posner M.C., Shiu M.H., Newsome J.L., et al. The desmoid tumor. Not a benign disease. Arch Surg 1989, 124(2):191-196.
64. Meazza C., Bisogno G., Gronchi A., et al. Aggressive fibromatosis in children and adolescents: the Italian experience. Cancer 2010, 116(1):233-240.
65. Leithner A., Gapp M., Leithner K., et al. Margins in extra-abdominal desmoid tumors: a comparative analysis. JSurg Oncol 2004, 86(3):152-156.
66. Huang K., Fu H., Shi Y.Q., et al. Prognostic factors for extra-abdominal and abdominal wall desmoids: a 20-year experience at a single institution. JSurg Oncol 2009, 100(7):563-569.
67. Goy B.W., Lee S.P., Eilber F., et al. The role of adjuvant radiotherapy in the treatment of resectable desmoid tumors. Int J Radiat Oncol Biol Phys 1997, 39(3):659-665.
68. Gronchi A., Casali P.G., Mariani L., et al. Quality of surgery and outcome in extra-abdominal aggressive fibromatosis: a series of patients surgically treated at a single institution. JClin Oncol 2003, 21(7):1390-1397.
69. 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. JClin Oncol 2011, 29(26):3553-3558.
70. Stoeckle E., Coindre J.M., Longy M., et al. Acritical analysis of treatment strategies in desmoid tumours: a review of a series of 106 cases. Eur J Surg Oncol 2009, 35(2):129-134.
71. de Bree E., Keus R., Melissas J., et al. Desmoid tumors: need for an individualized approach. Expert Rev Anticancer Ther 2009, 9(4):525-535.
72. Baumert B.G., Spahr M.O., Von Hochstetter A., et al. The impact of radiotherapy in the treatment of desmoid tumours. An international survey of 110 patients. A study of the Rare Cancer Network. Radiat Oncol 2007, 2:12.
73. Rutenberg M.S., Indelicato D.J., Knapik J.A., et al. External-beam radiotherapy for pediatric and young adult desmoid tumors. Pediatr Blood Canc 2011, 57(3):435-442.
74. Bonvalot S., Desai A., Coppola S., et al. The treatment of desmoid tumors: a stepwise clinical approach. Ann Oncol 2012, 23(Suppl 10):x158-x166.
75. von Mehren M, Benjamin R, Bui MM, etal. Soft tissue sarcoma. 2013; Version 3.2012. Available at: Accessed January 18, 2013. http://www.nccn.org/professionals/physician_gls/pdf/sarcoma.pdf.
76. Kujak J.L., Liu P.T., Johnson G.B., et al. Early experience with percutaneous cryoablation of extra-abdominal desmoid tumors. Skeletal Radiol 2010, 39(2):175-182.
77. Nuyttens J.J., Rust P.F., Thomas C.R., et al. Surgery versus radiation therapy for patients with aggressive fibromatosis or desmoid tumors: a comparative review of 22 articles. Cancer 2000, 88(7):1517-1523.
78. Fontanesi J., Mott M.P., Kraut M.J., et al. The role of postoperative irradiation in the treatment of locally recurrent incompletely resected extra-abdominal desmoid tumors. Sarcoma 2004, 8(2-3):83-86.
79. Jelinek J.A., Stelzer K.J., Conrad E., et al. The efficacy of radiotherapy as postoperative treatment for desmoid tumors. Int J Radiat Oncol Biol Phys 2001, 50(1):121-125.
80. Zlotecki R.A., Scarborough M.T., Morris C.G., et al. External beam radiotherapy for primary and adjuvant management of aggressive fibromatosis. Int J Radiat Oncol Biol Phys 2002, 54(1):177-181.
81. Gluck I., Griffith K.A., Biermann J.S., et al. Role of radiotherapy in the management of desmoid tumors. Int J Radiat Oncol Biol Phys 2011, 80(3):787-792.
82. Waddell W.R., Gerner R.E. Indomethacin and ascorbate inhibit desmoid tumors. JSurg Oncol 1980, 15(1):85-90.
83. Tsukada K., Church J.M., Jagelman D.G., et al. Noncytotoxic drug therapy for intra-abdominal desmoid tumor in patients with familial adenomatous polyposis. Dis Colon Rectum 1992, 35(1):29-33.
84. Klein W.A., Miller H.H., Anderson M., et al. The use of indomethacin, sulindac, and tamoxifen for the treatment of desmoid tumors associated with familial polyposis. Cancer 1987, 60(12):2863-2868.
85. Lim C.L., Walker M.J., Mehta R.R., et al. Estrogen and antiestrogen binding sites in desmoid tumors. Eur J Cancer Clin Oncol 1986, 22(5):583-587.
86. Janinis J., Patriki M., Vini L., et al. The pharmacological treatment of aggressive fibromatosis: a systematic review. Ann Oncol 2003, 14(2):181-190.
87. Brooks M.D., Ebbs S.R., Colletta A.A., et al. Desmoid tumours treated with triphenylethylenes. Eur J Cancer 1992, 28A(6-7):1014-1018.
88. Fiore M., Colombo C., Radaelli S., et al. Activity of toremifene in sporadic desmoid-type fibromatosis. JClin Oncol 2011, 29. [abstract 10033].
89. Chugh R., Wathen J.K., Patel S.R., 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(19):4884-4891.
90. Heinrich M.C., Joensuu H., Demetri G.D., et al. Phase II, open-label study evaluating the activity of imatinib in treating life-threatening malignancies known to be associated with imatinib-sensitive tyrosine kinases. Clin Cancer Res 2008, 14(9):2717-2725.
91. Heinrich M.C., McArthur G.A., Demetri G.D., et al. Clinical and molecular studies of the effect of imatinib on advanced aggressive fibromatosis (desmoid tumor). JClin Oncol 2006, 24(7):1195-1203.
92. Mace J., Sybil Biermann J., Sondak V., et al. Response of extraabdominal desmoid tumors to therapy with imatinib mesylate. Cancer 2002, 95(11):2373-2379.
93. Penel N., Le Cesne A., Bui B.N., et al. Imatinib for progressive and recurrent aggressive fibromatosis (desmoid tumors): an FNCLCC/French Sarcoma Group phase II trial with a long-term follow-up. Ann Oncol 2011, 22(2):452-457.
94. Cho N.L., Carothers A.M., Rizvi H., et al. Immunohistochemical and molecular analysis of tyrosine kinase activity in desmoid tumors. JSurg Res 2012, 173(2):320-326.
95. Gounder M.M., Lefkowitz R.A., Keohan M.L., et al. Activity of Sorafenib against desmoid tumor/deep fibromatosis. Clin Cancer Res 2011, 17(12):4082-4090.
96. Constantinidou A., Jones R.L., Scurr M., et al. Pegylated liposomal doxorubicin, an effective, well-tolerated treatment for refractory aggressive fibromatosis. Eur J Cancer 2009, 45(17):2930-2934.
97. Garbay D., Le Cesne A., Penel N., et al. Chemotherapy in patients with desmoid tumors: a study from the French Sarcoma Group (FSG). Ann Oncol 2012, 23(1):182-186.
98. Leithner A., Schnack B., Katterschafka T., et al. Treatment of extra-abdominal desmoid tumors with interferon-alpha with or without tretinoin. JSurg Oncol 2000, 73(1):21-25.
99. Skapek S., Ferguson W., Granowetter L., et al. Vinblastine and methotrexate for desmoid fibromatosis in children: results of a Pediatric Oncology Group Phase II trial. JClin Oncol 2007, 25(5):501-506.
100. Azzarelli A., Gronchi A., Bertulli R., et al. Low-dose chemotherapy with methotrexate and vinblastine for patients with advanced aggressive fibromatosis. Cancer 2001, 92(5):1259-1264.
101. Pilz T., Pilgrim T., Bisogno G., et al. Chemotherapy in fibromatosis of childhood and adolescence: results from the Cooperative soft tissue sarcoma study (CWS) and the Italian Cooperative study group (ICG-AIEOP). Klin Padiatr 1999, 211(4):291-295.
102. Shnitzler M., Cohen Z., Blackstein M., et al. Chemotherapy for desmoid tumors in association with familial adenomatous polyposis. Dis Colon Rectum 1997, 40(7):798-801.
103. Patel S., Evans H., Benjamin R. Combination chemotherapy in adult desmoid tumors. Cancer 1993, 72(11):3244-3247.