{"paper_id":"a645d6f8-03e4-4310-a727-13070fca0d9e","body_text":"COMMUNICA TION\nAppendicular desmoid tumour, an uncommon cause\nfor abdominal pain\nVladimir Revicky & Mazen Freij & Jose Nieto &\nEdward P. Morris\nReceived: 23 December 2008 / Accepted: 20 January 2009 / Published online: 7 February 2009\n# Springer-V erlag 2009\nAbstract This case report refers to a 17-year-old woman\nwho was admitted to a gynaecological ward with severe\nlower abdominal pain. She underwent an explorative\nlaparotomy, which revealed a large mass arising from the\nappendix. Her uterus, ovaries and tubes were found to be\nnormal. Appendicectomy and omental biopsy was performed.\nHistology revealed a mesenteric fibromatosis –desmoid\ntumour.\nKeywords Desmoid tumour . Fibromatosis . Appendix\nIntroduction\nDesmoid tumours are rare non-encapsulated, locally inva-\nsive soft tissue tumours of fibrous origin that lack the\nability to metastasise but are very notorious for recurrence;\nthey are also referred to as fibromatoses. Desmoids are\ncharacterised histologically by spindle-shaped cells, sur-\nrounded by and separated from one another by abundant\ncollagen [ 1]. These tumours arise in a variety of locations.\nExtra-abdominal desmoids occur in the chest wall, back,\nhip–gluteal region, shoulder girdle, upper arm and thigh.\nIntra-abdominal desmoids are rare tumours that can occur\nin the pelvis and mesentery [ 2]. A mesenteric desmoid is a\nrare tumour that can occur in the bowel mesentery with an\nincidence of two to five per million [ 3]. The risk factor\nmost strongly associated with desmoid tumours is familial\nadenomatous polyposis (FAP) [4, 5]. This strong association\nis typically found with Gardner ’s syndrome [ 4–6]. Well-\nrecognised risk factors are trauma, female sex, oestrogens,\npregnancy, trisomy 20 and 8 and the position of the APC\ngermline mutation [ 2, 4–9]. Desmoids represent a major\ncause of morbidity and mortality in FAP patients [ 10].\nComplications of desmoid tumours include bowel and\nureteric obstruction, colectomy, ileorectal anastomosis and\ndeath.\nSurgery is the main treatment, mainly for spontaneously\narising desmoids [ 11, 12]. Medical therapy, chemotherapy,\nradiotherapy and anti-estrogen therapy may be used in case\nof inoperable tumours [ 6, 13–18]. A possible future therapy\nis gene therapy by reintroduction of the APC gene into\nhuman fibroblasts [ 19]. Our report describes a case of a\nvery rare desmoid tumour which rose from the mesentery of\nthe appendix in a 17-year-old woman treated with surgery\nand who remained asymptomatic 12 months after the\ntherapy.\nCase report\nA 17-year-old girl presented to an emergency admission\nunit with severe lower abdominal pain, lasting for 4 days\nprior to admission. The pain was episodic and radiated to\nthe back. She described the intensity of pain as 8 out of 10,\nrequiring morphine analgesia. She had no history of nausea,\nvomiting or diarrhoea and no urinary symptoms. On\nphysical examination, the abdomen was tender suprapubi-\ncally and in the right iliac fossa, with no guarding or\nGynecol Surg (2011) 8:235 –238\nDOI 10.1007/s10397-009-0467-5\nV . Revicky: M. Freij : J. Nieto : E. P . Morris\nDepartment of Obstetrics and Gynaecology,\nNorfolk and Norwich University Hospital,\nColney Lane,\nNorwich NR4 7UY , UK\nV . Revicky (*)\n52 Atkinson Close,\nNorwich NR5 9NE, UK\ne-mail: revicky@yahoo.com\n\nrebound. Her past medical and surgical history was\ninsignificant, and she had no family history of familial\nadenomatous polyposis.\nPregnancy test was negative and urine analysis was\nwithin normal levels. An ultrasound scan demonstrated a\nlarge suprapubic mass measuring 7.6×11×8 cm.\nThis was separate from the bladder and uterus which\nappeared normal and lay close to the right iliac vessels. The\noverall impression was that this was a large suprapubic\nmass with the appearance highly suspicious for a malignant\nmass likely to be of gynaecological origin, possibly of\nthe right ovary. Magnetic resonance imaging (MRI) was\nperformed. It confirmed the presence of the mass; the origin\nwas difficult to identify with possibilities of a pedunculated\novarian tumour, possibly torsion or an unusual primary\nmesenteric or peritoneal tumour, possibly a sarcoma (Fig. 1).\nNo lymphadenopathy within the pelvis or retroperitoneum\nwas demonstrated. Tumour markers CA125, AFP , HCG and\nC E Aw e r er e p o r t e dt ob ew i t h i nn o r m a ll i m i t s .\nThis patient’s case was discussed in the multidisciplinary\ngynaecological oncology meeting. She underwent an\nexplorative laparotomy, which revealed a large mass arising\nfrom the appendix adherent to the omentum and to the\nposterior uterine wall, whereas the uterus, ovaries and tubes\nwere found to be normal. Appendicectomy and omental\nbiopsy were performed. The procedure and the post-\noperative course were uneventful.\nHistology revealed that adjacent to the appendix was a\nnon-encapsulated, relatively well-circumscribed spindle cell\ndesmoids tumour with no cellular atypia, mitotic figures or\nnecrosis and clean tissue margins of the specimen. At\n12 months after surgery, the patient remains asymptomatic.\nDiscussion\nMesenteric desmoid tumours are rare, with an estimated\nannual incidence of two to five per million [ 3]. The tumours\ncan arise sporadically or in association with familial\nadenomatous polyposis. Despite their inability to metasta-\nsise, desmoids are frequently locally invasive and may\ncompress surrounding structures [ 6]. The clinical spectrum\nof desmoid disease ranges from incidental small, stable\nlesions to rapidly growing, huge abdominal masses.\nPatients may note the mass themselves or present with\npain. Large desmoids can compress surrounding structures\nand cause an obstructive renal failure, a change in bowel\nhabits or bowel obstruction. Rapidly growing tumours may\ncause weight loss, cachexia and malaise [ 1, 4, 6]. In our\ncase, the woman did not have a family history of FAP or\nGardner’s syndrome and no history of trauma or a previous\nsurgery. She did not notice the abdominal mass herself and\ndid not have other common symptoms related to large\ndesmoid tumours. She only presented with abdominal pain.\nHer pain was not caused by torsion of desmoid tumour as\ndescribed in one previous case report of desmoid tumour\nrising from the mesentery of the appendix [ 12]. Estrogens\nhave been implicated in the pathogenesis of sporadic\ndesmoid tumours because females have a higher incidence,\nparticularly those of childbearing age [ 2, 3]. The growth of\ntumours in this group has been noted to be significantly\nfaster than in males or in post- or pre-menopausal women,\nand one of these studies directly correlated the rate of\ngrowth of tumours to the level of endogenous estrogens [ 3].\nIn our case, woman ’s childbearing age may have been the\nonly risk factor for developing a desmoid tumour. The\noptimal treatment has not yet been established and, in many\ncases, a multidisciplinary approach including surgery,\nchemotherapy and radiation therapy has been employed\n[6]. Based on a clinical course, desmoids can be divided\ninto four groups. Church [20] described that 10% of tumours\nresolve spontaneously, 30% undergo cycles of progression\nand resolution, 50% remain stable after diagnosis and 10%\nprogress rapidly. This natural behaviour should be borne in\nmind when assessing the efficacy of therapy. Some\ndesmoid tumours showed complete or partial regression\nand this may have happened anyway without any treatment\n[20, 21]. Given the problems with the unpredictable\ngrowth rate of desmoids, there is a good case for observation\nof desmoids, particularly with no symptoms [ 6, 21]. It is\nprudent to image all intra-abdominal tumours to ensure\nthey do not compress ureters [\n6]. Symptomatic or rapidly\ngrowing desmoids usually require treatment [ 6]. Surgery\nFig. 1 MRI—there is an 8-cm heterogeneous solid mass arising in the\npelvis\n236 Gynecol Surg (2011) 8:235 –238\n\nis the main treatment, mainly for spontaneously arising\ndesmoids [ 11, 12, 22, 23]. The objective is to obtain\ntumour-free margins. A positive margin is a leading cause\nof recurrence [ 24].\nClark et al. [ 23] reported 36% mortality rate and 71%\nrecurrence rate for patients operated on for mesenteric\ndesmoids. Therefore, high rates of recurrence should be\nexpected and patients must be counselled pre-operatively\nabout this risk. Tzakis et al. [ 22] reported a technique where\nthe tumour and small bowel were removed en bloc,\nperfused and cooled, and the tumour was resected in a\nbloodless field with subsequent auto-transplantation of\nthe small bowel back into the patient. Medical therapy\nincluding NSAID, sulindac, chemotherapy including\ndoxorubicin, radiotherapy and antiestrogen therapy with\ntamoxifen may be used in case of inoperable tumours\n[6, 13–18]. A possible future therapy is gene therapy by\nreintroduction of the APC gene into human fibroblasts\n[19]. Our patient was only 17 years old and presented with\nsevere abdominal pain lasting for 4 days. She had no\nhistory and no symptoms related to a possible diagnosis\nof desmoid tumour. MRI did not help to distinguish the\nnature of the tumour either. The site of the tumour and\nthe proximity of this structur e to female internal genital\norgans caused difficulties to establishing a diagnosis. MRI\nconcluded the tumour represented an unusual pelvic mass,\nwith possibilities of a ped unculated ovarian tumour,\npossibly torsion or an unusual primary peritoneal tumour,\npossibly a sarcoma. However, a definitive diagnosis was\nestablished after surgery and histopathological examination\nof the tumour.\nGiven the unpredictable behaviour of desmoid tumours,\nit is wise to establish a follow-up plan [ 21]. Our patient had\nno family history of FAP or Gardner ’s syndrome, but it is\nprudent to consider colonoscopy or APC mutation testing\nin similar cases [ 25].\nMRI scanning using T2-weighted imaging may be\nhelpful in the monitoring of the behaviour of these tumours\n[26].\nConclusion\nDesmoid tumours arise from various abdominal and extra-\nabdominal locations.\nIntra-abdominally, the most common site is within\nmesentery. In rare cases, the site of the desmoid tumour\ncan be the mesentery of the appendix. The location of the\ntumour can cause diagnostic difficulties in identifying the\nsource of pain. Surgery with complete tumour removal is\ncommonly used in managing desmoid tumours. However,\ncurrent management plans are not based on robust\nevidences. The rarity of this condition and the unpredictable\nbehaviour of these tumours may complicate a design of\nrandomised trials.\nReferences\n1. Middleton SB, Pack K, Phillips RK (2000) Telomere length in\nfamilial adenomatous polyposis-associated desmoids. Dis Colon\nRectum 43:1535 –1539\n2. Reitamo JJ, Hayry P , Nykyri E et al (1982) The desmoid tumor. I.\nIncidence, sex-, age- and anatomical distribution in the Finnish\npopulation. Am J Clin Pathol 77:665 –673\n3. Reitamo JJ, Scheinin TM, Hayry P (1986) The desmoid\nsyndrome. New aspects in the cause, pathogenesis and treatment\nof the desmoid tumor. Am J Surg 151:230 –237\n4. 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AJR Am J\nRoentgenol 169:465 –472\n238 Gynecol Surg (2011) 8:235 –238","source_license":"CC0","license_restricted":false}