SciELO - Scientific Electronic Library Online

 
vol.110 issue10Factors that predict the presence of non-small bowel lesions during capsule endoscopy examinationsVillous adenoma of the choledocho: an infrequent pathology of the main bile duct author indexsubject indexarticles search
Home Pagealphabetic serial listing  

My SciELO

Services on Demand

Journal

Article

Indicators

Related links

  • On index processCited by Google
  • Have no similar articlesSimilars in SciELO
  • On index processSimilars in Google

Share


Revista Española de Enfermedades Digestivas

Print version ISSN 1130-0108

Rev. esp. enferm. dig. vol.110 n.10 Madrid Oct. 2018

https://dx.doi.org/10.17235/reed.2018.5630/2018 

SCIENTIFIC LETTERS

Desmoid fibromatosis of the esophagogastric junction

Raquel Díaz-Ruiz1  , Virginia Flores-Fernández1  , José-Antonio Pajares-Díaz1 

1Digestive Diseases Service. Hospital General Universitario Gregorio Marañón. Madrid, Spain

Key words: Desmoid fibromatosis; B-catenin; FAP

Dear Editor,

Desmoid fibromatosis is a mesenchymal clonal proliferation which lacks metastatic potential. Nevertheless, it has an infiltrative growth and thus implies a high morbidity 1. Although the etiology remains unclear, mutations in the B-catenin or APC genes are involved. Some risk factors include pregnancy, hormonal exposure or surgery. Desmoid fibromatosis can be sporadic (80%) or FAP-associated 2. In sporadic cases, it is caused by mutations in the B-catenin (CTNNB1) gene. Whether it is FAP-associated or not should be determined, as the treatment for each condition is different. A radiologic test is essential for diagnosis, although a biopsy is necessary for confirmation. With regard to treatment, there is a wide range of different alternatives such as observation only, medical treatment or even surgery 3. However, a recurrence rate that ranges from 30% to 40% has been reported in the major published series 4 and thus, conservative treatment is more common nowadays.

Case report

We present the case of an 82-year-old male with constitutional syndrome. A computed tomography was performed, which identified a 69 x 52 mm mass in the esophagogastric union (Fig. 1). A computed tomography guided biopsy was performed and the histological analysis identified a fusocellular tumor compatible with desmoid fibromatosis. Treatment was started with indomethacin. However, a control computed tomography three months later showed that the mass had grown. Thus, indomethacin treatment was stopped and tamoxifen treatment was started. The patient has had an excellent performance status since symptom presentation.

Fig. 1 ACT scan showing a 69 x 52 mm mass in the esophagogastric union (red circle). 

Discussion

In conclusion, desmoid tumors are rare and most are sporadic. However, they may also be associated with familial adenomatous polyposis syndrome. It must be emphasized that our patient did not have any risk factors and the anatomical location in the esophagogastric union is not a common location. Desmoid fibromatosis represents a clinical challenge for diagnosis and treatment and thus, management should be individualized.

References

1. Kasper B, Strobel P, Hohenberger P, et al. Desmoid tumors: clinical features and treatment options for advanced disease. Oncologist 2011;16:682-93. DOI: 10.1634/theoncologist.2010-0281 [ Links ]

2. Garzón Benavides M, Pizarro Moreno A, García Lozano R, et al. Registro Andaluz de la Poliposis Adenomatosa Familiar. Análisis de los pacientes incluidos. Rev Esp Enferm Dig 2010;102:653-7. [ Links ]

3. Escobar C, Munker R, Thomas JO, et al. Update on desmoid tumors. Ann Oncol 2012;23:562-9. DOI: 10.1093/annonc/mdr386 [ Links ]

4. Ballo MT, Zagars GK, Pollack A, et al. Desmoid tumor: prognostic factors and outcome after surgery, radiation therapy or combined surgery and radiation therapy. J Clin Oncol 1999;17:158-67. DOI: 10.1200/JCO.1999.17.1.158 [ Links ]

Creative Commons License This is an open-access article distributed under the terms of the Creative Commons Attribution License