Desmoid tumor risk factors

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Case #1

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2]

Overview

Common risk factors for the development of desmoid tumor include personal or family history of familial adenomatous polyposis (FAP), Gardner syndrome, Turcot syndrome, specific location of APC (adenomatous polyposis coli) gene mutation i.e. 3' of codon 1444, family history of desmoid tumor, estrogen therapy, pregnancy, history of antecedent surgical or accidental trauma or repeated irradiation at the tumor site, female gender and androgens.

Risk Factors

Common risk factors for the development of desmoid tumor include:[1]

Common risk factors for development of desmoid tumor
Risk factors Associated features
Familial adenomatous polyposis (FAP) (10-20%)[2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17]
  • 852 times elevated risk of developing desmoids in FAP patients as compared to general population
  • Mostly desmoids in FAP are intra-abdominal or involve abdominal wall
  • Most of these desmoids are unresectable associated with diffuse infiltration of mesentery
  • FAP is associated with mutations in the APC (adenomatous polyposis coli) gene, located on chromosome 5q21-q22
  • Sometimes, only manifestation of APC mutation is desmoid
  • FAP screening recommended in patients with multiple intraabdominal or truncal desmoid tumors
  • Risk of finding FAP in patients who develop a desmoid without a prior history of FAP is relatively low (4.8% only)
  • Colonoscopy is recommended for all patients diagnosed with a desmoid tumor, particularly an intraabdominal desmoid
Gardner syndrome (inherited desmoids)
Turcot syndrome
Specific location of APC (adenomatous polyposis coli) gene mutation i.e. 3' end of the APC gene, specifically between codons 1445 and 1580[12][18][19][20][21][22][23][24][25]
  • Mutations between codons 1310 and 2011 are associated with a sixfold risk of desmoid tumors relative to the low-risk reference region (159 to 495)
Family history of desmoid tumor
Family history of colon cancer/FAP
  • Obtain an accurate family history, particularly of colon cancer, during the initial evaluation
Estrogen therapy[26]
Pregnancy[27][28][29][30]
  • Extraabdominal and abdominal desmoids occur in women during or following pregnancy
  • Presents as an abdominal mass separate from uterus
  • Occurs in pregnancy due to:
    • Pregnancy-associated high estrogen levels
    • Trauma related to the pregnancy (including a scar from a prior Cesarean section)
  • History of desmoid resection in prior pregnancy is associated with low recurrence risk in future pregnancies
  • Existing desmoid (pregnancy-associated or predating any pregnancy) managed with watchful waiting has a chance to grow during a subsequent pregnancy (but not always)
  • Good overall outcomes without attributable obstetric complications
History of antecedent surgical/accidental trauma at the tumor site (30%)[31][32]
  • Previous abdominal surgery in patients with FAP
  • Previous pelvic surgery
  • In one-half patients, desmoids can develop within first five years post-surgery
History of breast cancer[33] History of breast cancer or previous breast surgery is associated with breast desmoids
History of repeated irradiation to a certain body part
Female gender
Sex hormones/androgens [34]
  • Desmoid tumours express receptors for sex steroid hormones

Reference

  1. ↑ Jenayah, Amel Achour; Bettaieb, Hajer; Saoudi, Sarra; Gharsa, Anissa; Sfar, Ezzeddine; Boudaya, Fethia; Chelli, Dalenda (2015). "Desmoid tumors: clinical features and treatment options: a case report and a review of literature". Pan African Medical Journal. 21. doi:10.11604/pamj.2015.21.93.7037. ISSN 1937-8688.
  2. ↑ Nieuwenhuis MH, Casparie M, Mathus-Vliegen LM, Dekkers OM, Hogendoorn PC, Vasen HF (2011). "A nation-wide study comparing sporadic and familial adenomatous polyposis-related desmoid-type fibromatoses". Int J Cancer. 129 (1): 256–61. doi:10.1002/ijc.25664. PMID 20830713.
  3. ↑ Fallen T, Wilson M, Morlan B, Lindor NM (2006). "Desmoid tumors -- a characterization of patients seen at Mayo Clinic 1976-1999". Fam Cancer. 5 (2): 191–4. doi:10.1007/s10689-005-5959-5. PMID 16736290.
  4. ↑ Koskenvuo L, Peltomäki P, Renkonen-Sinisalo L, Gylling A, Nieminen TT, Ristimäki A; et al. (2016). "Desmoid tumor patients carry an elevated risk of familial adenomatous polyposis". J Surg Oncol. 113 (2): 209–12. doi:10.1002/jso.24117. PMID 26663236.
  5. ↑ Nieuwenhuis MH, Lefevre JH, Bülow S, Järvinen H, Bertario L, Kernéis S; et al. (2011). "Family history, surgery, and APC mutation are risk factors for desmoid tumors in familial adenomatous polyposis: an international cohort study". Dis Colon Rectum. 54 (10): 1229–34. doi:10.1097/DCR.0b013e318227e4e8. PMID 21904137.
  6. ↑ Clark SK, Neale KF, Landgrebe JC, Phillips RK (1999). "Desmoid tumours complicating familial adenomatous polyposis". Br J Surg. 86 (9): 1185–9. doi:10.1046/j.1365-2168.1999.01222.x. PMID 10504375.
  7. ↑ Heiskanen I, Järvinen HJ (1996). "Occurrence of desmoid tumours in familial adenomatous polyposis and results of treatment". Int J Colorectal Dis. 11 (4): 157–62. PMID 8876270.
  8. ↑ Gurbuz AK, Giardiello FM, Petersen GM, Krush AJ, Offerhaus GJ, Booker SV; et al. (1994). "Desmoid tumours in familial adenomatous polyposis". Gut. 35 (3): 377–81. PMC 1374594. PMID 8150351.
  9. ↑ Hizawa K, Iida M, Mibu R, Aoyagi K, Yao T, Fujishima M (1997). "Desmoid tumors in familial adenomatous polyposis/Gardner's syndrome". J Clin Gastroenterol. 25 (1): 334–7. PMID 9412915.
  10. ↑ Griffioen G, Bus PJ, Vasen HF, Verspaget HW, Lamers CB (1998). "Extracolonic manifestations of familial adenomatous polyposis: desmoid tumours, and upper gastrointestinal adenomas and carcinomas". Scand J Gastroenterol Suppl. 225: 85–91. PMID 9515758.
  11. ↑ Tsukada K, Church JM, Jagelman DG, Fazio VW, McGannon E, George CR; et al. (1992). "Noncytotoxic drug therapy for intra-abdominal desmoid tumor in patients with familial adenomatous polyposis". Dis Colon Rectum. 35 (1): 29–33. PMID 1310270.
  12. ↑ 12.0 12.1 Bertario L, Russo A, Sala P, Eboli M, Giarola M, D'amico F; et al. (2001). "Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis". Int J Cancer. 95 (2): 102–7. PMID 11241320.
  13. ↑ Koh PK, Loi C, Cao X, Cheah PY, Ho KS, Ooi BS; et al. (2007). "Mesenteric desmoid tumors in Singapore familial adenomatous polyposis patients: clinical course and genetic profile in a predominantly Chinese population". Dis Colon Rectum. 50 (1): 75–82. doi:10.1007/s10350-006-0759-z. PMID 17082890.
  14. ↑ Church JM (1998). "Mucosal ischemia caused by desmoid tumors in patients with familial adenomatous polyposis: report of four cases". Dis Colon Rectum. 41 (5): 661–3. PMID 9593254.
  15. ↑ Sagar PM, Möslein G, Dozois RR (1998). "Management of desmoid tumors in patients after ileal pouch-anal anastomosis for familial adenomatous polyposis". Dis Colon Rectum. 41 (11): 1350–5, discussion 1355-6. PMID 9823798.
  16. ↑ Penna C, Tiret E, Parc R, Sfairi A, Kartheuser A, Hannoun L; et al. (1993). "Operation and abdominal desmoid tumors in familial adenomatous polyposis". Surg Gynecol Obstet. 177 (3): 263–8. PMID 8395084.
  17. ↑ Kadmon M, Möslein G, Buhr HJ, Herfarth C (1995). "[Desmoid tumors in patients with familial adenomatous polyposis (FAP). Clinical and therapeutic observations from the Heidelberg polyposis register]". Chirurg. 66 (10): 997–1005. PMID 8529453.
  18. ↑ Schiessling S, Kihm M, Ganschow P, Kadmon G, Büchler MW, Kadmon M (2013). "Desmoid tumour biology in patients with familial adenomatous polyposis coli". Br J Surg. 100 (5): 694–703. doi:10.1002/bjs.9053. PMID 23334997.
  19. ↑ Nieuwenhuis MH, Vasen HF (2007). "Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature". Crit Rev Oncol Hematol. 61 (2): 153–61. doi:10.1016/j.critrevonc.2006.07.004. PMID 17064931.
  20. ↑ Sinha A, Tekkis PP, Gibbons DC, Phillips RK, Clark SK (2011). "Risk factors predicting desmoid occurrence in patients with familial adenomatous polyposis: a meta-analysis". Colorectal Dis. 13 (11): 1222–9. doi:10.1111/j.1463-1318.2010.02345.x. PMID 20528895.
  21. ↑ Caspari R, Olschwang S, Friedl W, Mandl M, Boisson C, Böker T; et al. (1995). "Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444". Hum Mol Genet. 4 (3): 337–40. PMID 7795585.
  22. ↑ Bertario L, Russo A, Sala P, Varesco L, Giarola M, Mondini P; et al. (2003). "Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis". J Clin Oncol. 21 (9): 1698–707. doi:10.1200/JCO.2003.09.118. PMID 12721244.
  23. ↑ Friedl W, Caspari R, Sengteller M, Uhlhaas S, Lamberti C, Jungck M; et al. (2001). "Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families". Gut. 48 (4): 515–21. PMC 1728231. PMID 11247896.
  24. ↑ Wallis YL, Morton DG, McKeown CM, Macdonald F (1999). "Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition". J Med Genet. 36 (1): 14–20. PMC 1762945. PMID 9950360.
  25. ↑ Church J, Xhaja X, LaGuardia L, O'Malley M, Burke C, Kalady M (2015). "Desmoids and genotype in familial adenomatous polyposis". Dis Colon Rectum. 58 (4): 444–8. doi:10.1097/DCR.0000000000000316. PMID 25751801.
  26. ↑ Desmoid tumor. Dr Tim Luijkx and Radswiki et al. Radiopedia 2015 http://radiopaedia.org/articles/aggressive-fibromatosis. Accessed on January 20, 2015
  27. ↑ Gansar GF, Markowitz IP, Cerise EJ (1987). "Thirty years of experience with desmoid tumors at Charity Hospital". Am Surg. 53 (6): 318–9. PMID 3579044.
  28. ↑ De Cian F, Delay E, Rudigoz RC, Ranchère D, Rivoire M (1999). "Desmoid tumor arising in a cesarean section scar during pregnancy: monitoring and management". Gynecol Oncol. 75 (1): 145–8. doi:10.1006/gyno.1999.5539. PMID 10502442.
  29. ↑ Lewis JJ, Boland PJ, Leung DH, Woodruff JM, Brennan MF (1999). "The enigma of desmoid tumors". Ann Surg. 229 (6): 866–72, discussion 872-3. PMC 1420834. PMID 10363901.
  30. ↑ Fiore M, Coppola S, Cannell AJ, Colombo C, Bertagnolli MM, George S; et al. (2014). "Desmoid-type fibromatosis and pregnancy: a multi-institutional analysis of recurrence and obstetric risk". Ann Surg. 259 (5): 973–8. doi:10.1097/SLA.0000000000000224. PMID 24477160.
  31. ↑ Schlemmer M (2005). "Desmoid tumors and deep fibromatoses". Hematol Oncol Clin North Am. 19 (3): 565–71, vii–viii. doi:10.1016/j.hoc.2005.03.008. PMID 15939197.
  32. ↑ Lopez R, Kemalyan N, Moseley HS, Dennis D, Vetto RM (1990). "Problems in diagnosis and management of desmoid tumors". Am J Surg. 159 (5): 450–3. PMID 2139764.
  33. ↑ Neuman HB, Brogi E, Ebrahim A, Brennan MF, Van Zee KJ (2008). "Desmoid tumors (fibromatoses) of the breast: a 25-year experience". Ann Surg Oncol. 15 (1): 274–80. doi:10.1245/s10434-007-9580-8. PMID 17896146.
  34. ↑ Hong H, Nadesan P, Poon R, Alman BA (2011). "Testosterone regulates cell proliferation in aggressive fibromatosis (desmoid tumour)". Br J Cancer. 104 (9): 1452–8. doi:10.1038/bjc.2011.107. PMC 3101926. PMID 21468052.

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