Skip to main content

Advertisement

Log in

Does routine colonoscopy help diagnose familial adenomatous polyposis in patients presenting with desmoid tumors but no gastrointestinal symptoms?

  • Short Communication
  • Published:
International Journal of Colorectal Disease Aims and scope Submit manuscript

Abstract

Purpose

Desmoid tumor (DT) is a rare myofibroblastic proliferative neoplasm, but can occur in up to 26% of patients with familial adenomatous polyposis (FAP). Therefore, DT may be an extraintestinal manifestation of FAP that precedes the development of advanced malignancies. The aim of this study was to identify the incidence of polyps in DT patients and investigate value of colonoscopy for diagnosis of FAP in DT patients without gastrointestinal symptoms.

Materials and methods

The records of patients diagnosed with DT were retrospectively reviewed using the clinical data warehouse (CDW) system. Clinical data, including location of tumor, type(s) of treatment, and colonoscopic findings, were collected.

Results

Sixty-five patients were diagnosed with DT during the study period; 10 patients received colonoscopies before diagnosis of DT, and 20 patients received colonoscopies after diagnosis of DT. The mean age at diagnosis of DT was 41.9 ± 16.7 years old (range 17–74). Most tumors were extra-abdominal (n = 24, 80.0%), and fewer were intra-abdominal (n = 4, 13.3%) or in an abdominal wall (n = 2, 6.7%). The colonoscopy results revealed one or two tubular adenomas in 11 patients (36.6%), although none of the patients had colorectal polyposis or colorectal cancer.

Conclusion

None of the patients in our study population had colorectal polyposis. Routine colonoscopy of DT patients without gastrointestinal symptoms seems to have low diagnostic yield for detection of FAP.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  1. Sturt NJ, Clark SK (2006) Current ideas in desmoid tumours. Familial Cancer 5(3):275–285 . doi:10.1007/s10689-005-5675-1discussion 287-278

    Article  PubMed  Google Scholar 

  2. Vasen HF, Moslein G, Alonso A, Aretz S, Bernstein I, Bertario L, Blanco I, Bulow S, Burn J, Capella G, Colas C, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Jarvinen H, Mecklin JP, Moller P, Myrhoi T, Nagengast FM, Parc Y, Phillips R, Clark SK, de Leon MP, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen J (2008) Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 57(5):704–713. doi:10.1136/gut.2007.136127

    Article  CAS  PubMed  Google Scholar 

  3. Lefevre JH, Parc Y, Kerneis S, Goasguen N, Benis M, Parc R, Tiret E (2008) Risk factors for development of desmoid tumours in familial adenomatous polyposis. Br J Surg 95(9):1136–1139. doi:10.1002/bjs.6241

    Article  CAS  PubMed  Google Scholar 

  4. Fletcher CDM, Unni KK, Mertens F, World Health Organization., International Agency for Research on Cancer (2002) Pathology and genetics of tumours of soft tissue and bone. World Health Organization classification of tumours. IARC Press, Lyon

    Google Scholar 

  5. Aretz S, Uhlhaas S, Caspari R, Mangold E, Pagenstecher C, Propping P, Friedl W (2004) Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis. Eur J Hum Genet 12(1):52–58. doi:10.1038/sj.ejhg.5201088

    Article  CAS  PubMed  Google Scholar 

  6. 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. International journal of cancer Journal international du cancer 129(1):256–261. doi:10.1002/ijc.25664

    Article  CAS  PubMed  Google Scholar 

  7. Fallen T, Wilson M, Morlan B, Lindor NM (2006) Desmoid tumors—a characterization of patients seen at Mayo Clinic 1976-1999. Familial Cancer 5(2):191–194. doi:10.1007/s10689-005-5959-5

    Article  PubMed  Google Scholar 

  8. Lazar AJ, Tuvin D, Hajibashi S, Habeeb S, Bolshakov S, Mayordomo-Aranda E, Warneke CL, Lopez-Terrada D, Pollock RE, Lev D (2008) Specific mutations in the β-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors. Am J Pathol 173(5):1518–1527. doi:10.2353/ajpath.2008.080475

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Nieuwenhuis MH, Mathus-Vliegen EM, Baeten CG, Nagengast FM, van der Bijl J, van Dalsen AD, Kleibeuker JH, Dekker E, Langers AM, Vecht J, Peters FT, van Dam R, van Gemert WG, Stuifbergen WN, Schouten WR, Gelderblom H, Vasen HF (2011) Evaluation of management of desmoid tumours associated with familial adenomatous polyposis in Dutch patients. Br J Cancer 104(1):37–42. doi:10.1038/sj.bjc.6605997

    Article  CAS  PubMed  Google Scholar 

  10. Nieuwenhuis MH, Lefevre JH, Bulow S, Jarvinen H, Bertario L, Kerneis S, Parc Y, Vasen HF (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):1229–1234. doi:10.1097/DCR.0b013e318227e4e8

    Article  PubMed  Google Scholar 

  11. Groen EJ, Roos A, Muntinghe FL, Enting RH, de Vries J, Kleibeuker JH, Witjes MJ, Links TP, van Beek AP (2008) Extra-intestinal manifestations of familial adenomatous polyposis. Ann Surg Oncol 15(9):2439–2450. doi:10.1245/s10434-008-9981-3

    Article  PubMed  PubMed Central  Google Scholar 

  12. Levy RA, Hui VW, Sood R, Fish S, Markowitz AJ, Wong RJ, Guillem JG (2014) Cribriform-morular variant of papillary thyroid carcinoma: an indication to screen for occult FAP. Familial Cancer 13(4):547–551. doi:10.1007/s10689-014-9732-5

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Duck-Woo Kim.

Ethics declarations

Conflicts of interest

The authors declare that they have no conflict of interest.

Additional information

Rumi Shin and Hwan-Seong Cho equally contributed to the present study.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Shin, R., Cho, HS., Kim, DW. et al. Does routine colonoscopy help diagnose familial adenomatous polyposis in patients presenting with desmoid tumors but no gastrointestinal symptoms?. Int J Colorectal Dis 32, 151–154 (2017). https://doi.org/10.1007/s00384-016-2701-8

Download citation

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00384-016-2701-8

Keywords

Navigation