Ruptured desmoid tumor in the jejunum

Abstract

Desmoid tumors, also known as aggressive fibromatosis, are extremely rare, accounting for less than 3% of soft-tissue sarcomas and less than 0,03% of all neoplasms. The diagnosis is usually delayed because of the lack of specific symptoms, and can sometimes lead to serious and, even fatal complications.

Case presentation

The case report was prepared following CARE guidelines. We present a 27-year-old male patient with complaints of pain in the lower right abdominal quadrant and suprapubic area with a duration of 4–5 h. The pain radiated to the right scrotum, and the patient noticed mucus at the end of micturition. Initially, the pain was colic, but at the moment of the physical examination, it was permanent, without nausea or vomiting. The patient reported an episode of fever up to 37,5 °C 2 days before, which quickly passed. The patient had no comorbidities or previous surgical procedures. The laboratory tests showed leukocytosis – a white blood cell count of 14,6 G/L, mild anemia – a hemoglobin level of 101 g/L, a red blood cell count of 3,5 T/L, a hematocrit level of 0,32; other parameters were within normal ranges. A urine test revealed the presence of protein, and there were red and white blood cells in the sediment. The X-ray of the abdomen showed only one air-fluid level with a small bowel origin. Ultrasound imaging did not demonstrate liquid behind the urinary bladder or additional abdominal pathology. Based on the findings, a diagnosis of appendicitis was suspected with the differential diagnosis of urinary tract disorders with cystitis. We admitted the patient to the hospital and began treatment with infusions of saline solutions, spasmolytics, and antibiotics. Despite this, the abdominal pain increased during the next 4 h, and signs of positive rebound tenderness (Blumberg’s sign) appeared.

Therefore, we decided to proceed with surgery without any further imaging investigations due to the highly probable diagnosis of acute appendicitis with spreading peritonitis. Abdominal exploration revealed a serohemorrhagic effusion of approximately 550 ml, which was aspirated. Surprisingly, a tumor formation involving the jejunum in its proximal third was found. The affected loop was situated near the ileocecal confluence. The mass consisted of cystic and solid areas. Macroscopically, it was difficult to determine the tumor origin – from the mesentery or the intestinal wall. In the cystic part, there was a necrotic zone with perforation, explaining the presence of hemorrhagic effusion in the abdominal cavity (Fig. 1a, b). The tumor was removed via resection of the small bowel, and the ex vivo dissection revealed a solid mass with ulceration located in the cystic sack (Fig. 2).

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a Intraoperative findings; b Focus on the necrotic zone in the tumor
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Histological and Macroscopic view of the specimen; Immunohistochemical tests positive for β-catenin and negative for CD117 (c- kit)

The histopathology of the specimen revealed an aggressive fibromatosis, which was removed with negative margins. The patient had no history of FAP or, Gardner’s syndrome, so the tumor was considered to be sporadic. Immunohistochemically, it was positive for β-catenin and negative for CD117 (c- kit). The histological and immunohistochemical findings are shown in Fig. 2.

The postoperative period was uneventful. A close follow-up with laboratory tests and ultrasound was performed every 6 months and computed tomography (CT) was carried out annually for 2 years. Subsequently, all the examinations were performed once a year. Until now (4 years since the operation), the patient has had no signs of recurrence.

Author

Corresponding author

Correspondence to Yavor Asenov.

References
  1. 1.Bertani E, Testori A, Chiappa A, Misitano P, Biffi R, Viale G, Mazzarol G, De Pas T, Botteri E, Contino G, Verrecchia F, Bazolli B, Andreoni B. Recurrence and prognostic factors in patients with aggressive fibromatosis. The role of radical surgery and its limitations. World J Surg Oncol. 2012;10:184–91.
  2. 2.Enzinger FM, Weiss SW. Fibromatosis. In: Enzinger FM, Weiss SW, editors. Soft tissue tumor. St. Louis: C.V.Mosby Co; 1995. p. 201–29.
  3. 3.Vallabha T, Sindgikar V, Baloorkar R, Dhamangoankar M, Karjol U. Desmoid infilterating ileum, a rare complication. Indian J Surg. 2013;75(1):192–4.
  4. 4.Harati K, Jaenisch A, Behr B, Goertz O, Harati A, Hirsch T, Stricker I, Lehnhardt M, Daigeler A. Effect of surgical margins on prognosis in aggressive fibromatosis: a single-institutional analysis of 90 patients. Oncol Lett. 2017;14(5):5129–34.
  5. 5.Kasper B, Baumgarten C, Garcia J, Bonvalot S, Haas R, Haller F, Hohenberger P, Penel N, Messiou C, van der Graaf WT, Gronchi A, Desmoid Working Group. An update on the management of sporadic desmoid-type fibromatosis: a European Consensus Initiative between Sarcoma Patients EuroNet (SPAEN) and European Organization for Research and Treatment of Cancer (EORTC)/Soft Tissue and Bone Sarcoma Group (STBSG). Ann Oncol. 2017;28(10):2399–408.
  6. 6.Church JM. Desmoid tumors in patients with familial adenomatous polyposis. Semin Colon Rectal Surg. 1995;6:29–32.
  7. 7.De Bree E, Keus R, Melissas J, et al. Desmoid tumors: need for an individualized approach. Expert Rev Anticancer Ther. 2009;9:525–35.
  8. 8.Mastoraki A, Schizas D, Vergadis C, Naar L, Strimpakos A, Vailas MG, Hasemaki N, Agrogiannis G, Liakakos T, Arkadopoulos N. Recurrent aggressive mesenteric desmoid tumor successfully treated with sorafenib: a case report and literature review. World J Clin Oncol. 2019;10(4):183–91.
  9. 9.Ebeling PA, Fun T, Beale K, Cromer R, Kempenich JW. Primary Desmoid tumor of the small bowel: a case report and literature review. Cureus. 2019;11(6):e4915.
  10. 10.Li J, Xu R, Hu DM. Rare acute abdominal condition caused by mesenteric fibromatosis perforation: a case report. Medicine (Baltimore). 2019;98(2):e14115.
  11. 11.Chang CW, Wang TE, Chang WH, Yang TL, Chen CK, Hung YC, Shih SC. Unusual presentation of desmoid tumor in the small intestine: a case report. Med Oncol. 2011;28(1):159–62.
  12. 12.Li Destri G, Ferraro MJ, Calabrini M, Pennisi M, Magro G. Desmoid-type fibromatosis of the mesentery: report of a sporadic case with emphasis on differential diagnostic problems. Case Rep Med. 2014;2014:850180.
  13. 13.Georgiades C, Vallianou N, Argyrakos T, Aristodimou A, Kolovelonis G, Sioula E. An unusual case of desmoid tumour presenting as haemorrhagic shock. Ann R Coll Surg Engl. 2012;94(2):81–2.
  14. 14.Peled Z, Linder R, Gilshtein H, Kakiashvili E, Kluger Y. Cecal fibromatosis (desmoid tumor) mimicking periappendicular abscess: a case report. Case Rep Oncol. 2012;5(3):511–4.
  15. 15.Kasper B, Ströbel P, Hohenberger P. Desmoid tumors: clinical features and treatment options for advanced disease. Oncologist. 2011;16(5):682–93.
  16. 16.Bertani E, Chiappa A, Testori A, Mazzarol G, Biffi R, Martella S, Pace U, Soteldo J, Vigna PD, Lembo R, Andreoni B. Desmoid tumors of the anterior abdominal wall: results from a monocentric surgical experience and review of the literature. Ann Surg Oncol. 2009;16:1642–9.
  17. 17.Nuyttens JJ, Rust PF, Thomas CR Jr, et al. Surgery versus radiation therapy for patients with aggressive fibromatosis or desmoid tumors: a comparative review of 22 articles. Cancer. 2000;88:1517–23.
  18. 18.Yao X, Corbett T, Gupta AA, Kandel RA, Verma S, Werier J, Ghert M. A systematic review of active treatment options in patients with desmoid tumors. Curr Oncol. 2014;21(4):613–29.
  19. 19.Baliski CR, Temple WJ, Arthur K, Schachar NS. Desmoid tumors: a novel approach for local control. J Surg Oncol. 2002;80:96–9.
  20. 20.Hansmann A, Adolph C, Vogel T, Unger A, Moeslein G. High-dose tamoxifen and sulindac as first-line treatment for desmoid tumors. Cancer. 2004;100:612–20.
  21. 21.Klemi P, Alanen K, Hietanen S, Grenman S, Varpula M, Salmi T. Response of estrogen receptor-positive intraabdominal fibromatosis to aromatase inhibitor therapy. Obstet Gynecol. 2003;102(2):1155–8.
  22. 22.Signorini S, Frattini M, Negri T, et al. Cyclooxygenase-2 and plateletderived growth factor receptors as potential targets in treating aggressive fibromatosis. Clin Cancer Res. 2007;13:5034–40.
  23. 23.Van der Hul RL, Seynaeve C, van Geel BN, et al. Low dose methotrexate and vinblastine, given weekly to patients with desmoid tumours, is associated with major toxicity. Sarcoma. 2003;7:153–7.
  24. 24.Patel SR, Evans HL, Benjamin RS. Combination chemotherapy in adult desmoid tumors. Cancer. 1993;72:3244–7.
  25. 25.Gega M, Yanagi H, Yoshikawa R, et al. Successful chemotherapeutic modality of doxorubicin plus dacarbazine for the treatment of desmoid tumors in association with familial adenomatous polyposis. J Clin Oncol. 2006;24:102–5.
  26. 26.Liu X, Wang H, Wu X, Hong X, Luo Z. Phase II study of doxorubicin and thalidomide in patients with refractory aggressive fibromatosis. Investig New Drugs. 2018;36(1):114–20.
  27. 27.Toulmonde M, Pulido M, Ray-Coquard I, Andre T, Isambert N, Chevreau C, Penel N, Bompas E, Saada E, Bertucci F, Lebbe C, Le Cesne A, Soulie P, Piperno-Neumann S, Sweet S, Cecchi F, Hembrough T, Bellera C, Kind M, Crombe A, Lucchesi C, Le Loarer F, Blay JY, Italiano A. Pazopanib or methotrexate-vinblastine combination chemotherapy in adult patients with progressive desmoid tumours (DESMOPAZ): a non-comparative, randomised, open-label, multicentre, phase 2 study. Lancet Oncol. 2019;20(9):1263–72.
  28. 28.Escobar C, Munker R, Thomas JO, Li BD, Burton GV. Update on desmoid tumors. Ann Oncol. 2011;23:562–9.
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