Autopsy and Case Reports
http://autopsyandcasereports.org/article/doi/10.4322/acr.2018.045
Autopsy and Case Reports
Article / Clinical Case Report

Large desmoid tumors in familial adenomatous polyposis: a successful outcome

Vítor Devezas; Laura Elisabete Barbosa; Rosa Ramalho; Cristina Sarmento; José Costa Maia

Abstract

Desmoid tumors develop from connective tissue, fasciae, and aponeuroses, and may occur in the context of familial adenomatous polyposis or may arise sporadically; also, they may be extra-abdominal, intra-abdominal, or located in the abdominal wall. These benign tumors have a great aggressiveness with a high rate of local recurrence. Familial adenomatous polyposis is an inherited condition with autosomal dominant transmission, and is characterized by the development of multiple colonic and rectal adenomatous polyps, as well as desmoid tumors. We present the case of a 54-year-old woman with germline APC gene mutation, who underwent a total colectomy, subsequently developing two large infiltrative solid intra-abdominal lesions consistent with desmoid tumors. Medical treatment with Cox-2 inhibitors was initiated without result. She was submitted to resection for intestinal obstruction, but developed local recurrence. The lesions were also unresponsive to tamoxifen, and chemotherapy was initiated with dacarbazine plus doxorubicin, switching to vinorelbine plus methotrexate, achieving a good response in all lesions after 12 months. The approach to these intra-abdominal lesions should be progressive, beginning with observation, then a medical approach with non-steroidal anti-inflammatory drugs or with an anti-hormonal agent. Afterwards, if progression is still evident, chemotherapy should be started. Surgery should be reserved for resistance to medical treatment, in palliative situations, or for extra-abdominal or abdominal wall desmoids tumors.

Keywords

Fibromatosis, Aggressive, Neoplastic Syndromes, Hereditary, Adenomatous Polyposis Coli, Drug Therapy

References

Tanaka K, Toiyama Y, Okugawa Y, et al. Cytoreductive strategy for multiple intra-abdominal and abdominal wall desmoid tumors in familial adenomatous polyposis: report of three cases. Clin J Gastroenterol. 2012;5(5):361-6. 10.1007/s12328-012-0330-5.26181076

Ferenc T, Sygut J, Kopczynski J, et al. Aggressive fibromatosis (desmoid tumors): definition, occurrence, pathology, diagnostic problems, clinical behavior, genetic background. Pol J Pathol. 2006;57(1):5-15.16739877

Colombo C, Foo WC, Whiting D, et al. FAP-related desmoid tumors: a series of 44 patients evaluated in a cancer referral center. Histol Histopathol. 2012;27(5):641-9.22419028

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):2587-93. 10.1245/s10434-009-0586-2.19568815

Leal RF, Silva PVVT, Ayrizono MLS, Fagundes JJ, Amstalden EMI, Coy CSR. Desmoid tumor in patients with familial adenomatous polyposis. Arq Gastroenterol. 2010;47(4):373-8. 10.1590/S0004-28032010000400010.21225148

Pikaar A, Nortier JW, Griffioen G, Vasen HF. Desmoid tumors in patients with familial adenomatous polyposis. Ned Tijdschr Geneeskd. 2002;146(29):1355-9.12162172

Righetti AEM, Jacomini C, Parra RS, Almeida ALNR, Rocha JJR, Féres O. Familial adenomatous polyposis and desmoid tumors. Clinics. 2011;66(10):1839-42. 10.1590/S1807-59322011001000027.22012061

Bertario L, Russo A, Sala P, et al. Genotype and phenotype factors as determinants of desmoids tumors in patients with familial adenomatous polyposis. Int J Cancer. 2001;95(2):102-7. 10.1002/1097-0215(20010320)95:2<102::AID-IJC1018>3.0.CO;2-8.11241320

Friedl W, Caspari R, Sengteller M, et al. Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut. 2001;48(4):515-21. 10.1136/gut.48.4.515.11247896

Freitas ACR, Barbosa LER. Genetic profile, risk factors and therapeutic approach of desmoid tumors in familial adenomatous polyposis. J Coloproctol (Rio J). 2017;37(2):163-70. 10.1016/j.jcol.2017.04.001.

Fisher C, Thway K. Aggressive fibromatosis. Pathology. 2014;46(2):135-40. 10.1097/PAT.0000000000000045.24378386

Schiessling S, Kihm M, Ganschow P, Kadmon G, Büchler MW, Kadmon M. Desmoid tumour biology in patients with familial adenomatous polyposis coli. Br J Surg. 2013;100(5):694-703. 10.1002/bjs.9053.23334997

Fallen T, Wilson M, Morlan B, Lindor NM. Desmoid tumors—a characterization of patients seen at the Mayo Clinic 1976–1999. Fam Cancer. 2006;5(2):191-4. 10.1007/s10689-005-5959-5.16736290

Latchford AR, Sturt NJ, Neale K, Rogers PA, Phillips RK. A 10-year review of surgery for desmoid disease associated with familial adenomatous polyposis. Br J Surg. 2006;93(10):1258-64. 10.1002/bjs.5425.16952208

Seow-Choen F. The management of desmoids in patients with familial adenomatous polyposis (FAP). Acta Chir Iugosl. 2008;55(3):83-7. 10.2298/ACI0803083S.19069698

Xie Y, Xie K, Gou Q, He J, Zhong L, Wang Y. Recurrent desmoid tumor of the mediastinum: a case report. Oncol Lett. 2014;8(5):2276-8. 10.3892/ol.2014.2431.25295113

Nagano S, Passos R, Santana M, et al. Tumor desmoide – Uma revisão de literatura. Rev Pat Tocantins. 2015;2:2-7.

Okuno S. The enigma of desmoid tumors. Curr Treat Options Oncol. 2006;7(6):438-43. 10.1007/s11864-006-0019-4.17032556

Vitellaro M, Sala P, Signoroni S, et al. Risk of desmoid tumours after open and laparoscopic colectomy in patients with familial adenomatous polyposis. Br J Surg. 2014;101(5):558-65. 10.1002/bjs.9411.24493089

Sturt NJ, Gallagher MC, Bassett P, et al. Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation. Gut. 2004;53(12):1832-6. 10.1136/gut.2004.042705.15542524

Fearnhead NS, Britton MP, Bodmer WF. The ABC of APC. Hum Mol Genet. 2001;10(7):721-33. 10.1093/hmg/10.7.721.11257105

Basdanis G, Papadopoulos VN, Panidis S, et al. Desmoid tumor of mesentery in familial adenomatous polyposis: a case report. Tech Coloproctol. 2010;14(Suppl 1):S61-2. 10.1007/s10151-010-0613-0.20683751

Ohashi T, Shigematsu N, Kameyama K, Kubo A. Tamoxifen for recurrent desmoid tumor of the chest wall. Int J Clin Oncol. 2006;11(2):150-2. 10.1007/s10147-005-0543-4.16622751

Bocale D, Rotelli MT, Cavallini A, Altomare DF. Anti-oestrogen therapy in the treatment of desmoid tumours: a systematic review. Colorectal Dis. 2011;13(12):e388-95. 10.1111/j.1463-1318.2011.02758.x.21831172

Chao AS, Lai CH, Hsueh S, Chen CS, Yang YC, Soong YK. Successful treatment of recurrent pelvic desmoid tumour with tamoxifen: case report. Hum Reprod. 2000;15(2):311-3. 10.1093/humrep/15.2.311.10655300

Okuno SH, Edmonson JH. Combination chemotherapy for desmoid tumors. Cancer. 2003;97(4):1134-5. 10.1002/cncr.11189.12569616

Nieuwenhuis MH, Mathus-Vliegen EM, Baeten CG, et al. Evaluation of management of desmoid tumours associated with familial adenomatous polyposis in Dutch patients. Br J Cancer. 2011;104(1):37-42. 10.1038/sj.bjc.6605997.21063417

Martins S, Leite J, Oliveira A, et al. Tratamento dos tumores desmoides intra-abdominais associados à Polipose Adenomatosa Familiar. Rev Port Cir. 2015;32:17-25.

Jung WB, Kim CW, Kim JC. Clinical characteristics adequate treatment of familial adenomatous polyposis combined with desmoid tumors. Cancer Res Treat. 2014;46(4):366-73. 10.4143/crt.2013.185.25152189

Nuyttens JJ, Rust PF, Thomas CR Jr, Turrisi AT 3rd. Surgery versus radiation therapy for patients with aggressive fibromatosis or desmoid tumors. Cancer. 2000;88(7):1517-23. 10.1002/(SICI)1097-0142(20000401)88:7<1517::AID-CNCR3>3.0.CO;2-9.10738207

Ballo MT, Zagars GK, Pollack A. Radiation therapy in the management of desmoid tumors. Int J Radiat Oncol Biol Phys. 1998;42(5):1007-14. 10.1016/S0360-3016(98)00285-5.9869223

Turina M, Pavlik CM, Heinimann K, Behrensmeier F, Simmen HP. Recurrent desmoids determine outcome in patients with Gardner syndrome: a cohort study of three generations of an APC mutation-positive family across 30 years. Int J Colorectal Dis. 2013;28(6):865-72. 10.1007/s00384-012-1600-x.23114473

Palacios-Zertuche JT, Cardona-Huerta S, Juárez-García ML, Valdés-Flores E, Muñoz-Maldonado GE. Case report: rapidly growing abdominal wall giant desmoid tumour during pregnancy. Cir Cir. 2017;85(4):339-43. 10.1016/j.circir.2016.04.004.27318390

Toiyama Y, Konishi N, Inoue Y, et al. Successful treatment of ileal pouch desmoids using multimodal chemotherapy with low-dose vinblastine and methotrexate in a patient with familial adenomatous polyposis. Clin J Gastroenterol. 2009;2(3):170-4. 10.1007/s12328-008-0055-7.26192289

Yamamoto H, Oshiro R, Nishimura J, et al. Low-dose dacarbazine-doxorubicin therapy against intra-abdominal desmoid tumors. Oncol Rep. 2013;29(5):1751-5. 10.3892/or.2013.2345.23503528

Gega M, Yanagi H, Yoshikawa R, et al. Successful chemotherapeutic modality of doxorubicin plus dacarbazine for the treatment of desmoid tumors in association with familial adenomatous polyposis. J Clin Oncol. 2006;24(1):102-5. 10.1200/JCO.2005.02.1923.16382119

Gounder M, Lefkowitz R, Keohan M, et al. Activity of sorafenib against desmoid tumor/deep fibromatosis. Clin Cancer Res. 2011;17(12):4082-90. 10.1158/1078-0432.CCR-10-3322.21447727

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(19):4884-91. 10.1158/1078-0432.CCR-10-1177.20724445

 

 

 

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