Desmoid tumor risk factors: Difference between revisions

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| colspan="2" |Turcot syndrome
| colspan="2" |Turcot syndrome
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| colspan="2" |Specific location of APC (adenomatous polyposis coli) gene mutation i.e. 3' of codon 1444
| colspan="2" |Specific location of APC (adenomatous polyposis coli) gene mutation i.e. 3' end of the ''APC'' gene, specifically between codons 1445 and 1580
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| colspan="2" |Family history of desmoid tumor
| colspan="2" |Family history of desmoid tumor

Revision as of 21:40, 27 February 2019

Desmoid tumor Microchapters

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Differentiating Desmoid tumor from other Diseases

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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 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 trauma at the tumor site and female gender.

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' end of the APC gene, specifically between codons 1445 and 1580
Family history of desmoid tumor
Estrogen therapy[18]
Pregnancy[19][20][21][22]
  • 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%)[23][24]
  • 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. ↑ 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. ↑ Desmoid tumor. Dr Tim Luijkx and Radswiki et al. Radiopedia 2015 http://radiopaedia.org/articles/aggressive-fibromatosis. Accessed on January 20, 2015
  19. ↑ 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.
  20. ↑ 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.
  21. ↑ 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.
  22. ↑ 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.
  23. ↑ 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.
  24. ↑ 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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