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]Faizan Sheraz, M.D. [3]

Overview

Common risk factors for the development of desmoid tumor include an APC mutation 3' to codon 1399, previous abdominal surgery, and the female sex.[1]

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)
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[18][19][20][21]
  • 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 trauma at the tumor site (30%)[22][23]
  • Previous abdominal surgery in patients with FAP
  • In one-half patients, desmoids can develop within first five years post-surgery
Female gender
  • APC mutation 3' to codon 1399

Reference

  1. ↑ 1.0 1.1 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. ↑ 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. ↑ 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.
  19. ↑ 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.
  20. ↑ 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.
  21. ↑ 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.
  22. ↑ 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.
  23. ↑ 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.

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